Diploid two sets of chromosomes (2n) e.g.

, one set from each parent- somatic/body cells

Embryo Unborn/unhatched offspring in process of development
Gamete Haploid (n) sex cells (egg/sperm) (n), produced by gonads; mammals: ovaries/testes; plants: ovaries/anthers
Gonad Sex organs (ovary, testes) that produce haploid gametes.
Haploid single set of chromosomes (n) (gametes).
Oogenesis Process in ovary that produces Ova (egg- female gamete, typically larger/stationary/robust)
Spermatogenesis Process in the testes that produces sperm (male gamete- tiny, mobile, fragile)
Protozoa eukaryotes, never have a cell wall. Heterotrophic/autotrophic.
REPRODUCTION: process of creating fertile offspring with genetic diversity/adaptability.
 Sexual reproduction (2 parents): combination of gametes so that offspring are genetically different to the parents.
 Asexual reproduction: no combination of gametes/genetic material, offspring are identical to the parent e.g., archaea.
Advantages Disadvantages
Sexual ✓ More Variations  continuity of species. High genetic exchange (meiosis, × More time (courtship)/energy, two-fold cost of sex
mutations, crossing over; more genetic combinations). × More complicated, involves suitable conditions.
✓ Better able to adapt. Selection pressures won’t remove species. × Fewer offspring produced, takes time to build a population
Asexual ✓ Rapid colonisation an environment without a mate (save time) × Limited diversity/variation/adaptations (share
✓ No requirement of mates/care of offspring. weaknesses), reduces ability to adapt to changing
✓ Faster, more reliable/less energy, simpler, quicker environments impact. May lead to extinction.
SEXUAL REPRODUCTION:
PLANTS Stamen (male): Anther: organ where the pollen (a fine powdery substance contains a male gamete- sperm nuclei) grains are formed.
Hermaphrodite  Filament: slender stalk where the anther is held. Length depends on pollination mode. Shorter = insect pollinated plants.
both male and Pistil/Carpels (female): Ovary: forms/contains ovules (eggs)  seeds after fertilisation.
female sex  Stigma: (top) sticky surface where pollen adheres to, to germinate.
organs.  Style: narrow stalk connecting stigma/ovary (supports stigma).
(angiosperm) POLLINATION: transfer of pollen from anther  stigma (external plant parts). Pollen grains are held up at anther where it is removed by the
wind, birds or insects. It is transferred to the pistil of the same flower (self-pollination) or another flower (cross-pollination- diversity).
FERTILISATION/DEVELOPMENT: union of 2 haploid gametes to produce a diploid zygote. Pollen falls on the stigma  pollen tube grows
(germinates) through stile to ovary. Pollen migrates down pollen tubes, to ovary. Sperm fertilises eggs. Fertilised ovule develops into a seed
and the surrounding ovary grows to become a fruit providing with nutrients.
GERMINATION: When fruit is removed, seeds within disperse. Embryo lies dormant, (dehydrated form). If suitable conditions (sufficient
water, oxygen, temperature), germination begins. The embryo puts out its: Radical (first root) for absorption of water/nutrients AND Plumule
(stem) which develops leaves for photosynthesis.
Method ADAPTATIONS FOR POLLINATION METHODS
Wind Protruding stigma catch pollen, Flower is not colourful (conserves energy), Light-weight/small pollen, large pollen production
Animals;  Colourful petals to attract pollinators E.g., bottlebrush; numerous stamen/bright red colour/nectar (birds).
birds/  UV markings for insect attraction, Scent and nectar
insects  Stigma and anthers within flower, energy not wasted in growing tall. Pollen is sticky.
Methods of seed dispersal (adaptations): prevents overcrowding/competition (continuity of species) more widespread = better survival
Wind Seeds are light weight
Animals (birds/insect) Seeds are fruit bearing (eaten by animals); Passes through digestive system, excreted, germinates
Self-dispersal has explosive mechanism, which propels seeds, reduces the competition for resources  better survival
ASEXUAL REPRODUCTION:
PLANTS VEGETATIVE PROPAGATION: done by vegetative organs (bulbs/tubers). New plants = clones. Cuttings: plant piece grows into a genetically
identical replica or Grafting: stem/bud from one parent is joined to another.
Part Vegetative organ
Stem RUNNERS: underground stems that connect plants producing baby plants tips. e.g., strawberries.
RHIZOMES: horizontal underground stems capable to producing shoot/root system of a new plant e.g., ginger.
TUBERS: develop from swollen regions of a stem, or from buds/eyes to store nutrients.
BULBS: stores complete life cycle in an underground structure OR grows on the plant in a bulbil (pre-formed juvenile plant) before
dropping off and forming runners/rhizomes.
Roots SUCKERS: vertical growths that can resprout from underground (rapid regrowth)- blackberries.
FUNGI e.g., SPORES: tiny, unicellular reproductive cells released from parent (unit for asexual reproduction). Germinates into a new organism (without
Yeast. sexual fusion). Bacterial cell: can produce a protective coat (shutting down its function, resuming when conditions are favourable) that
unicellular/ surrounds its DNA, protects from desiccation. Easily dispersed, stay dormant. Alternation of generation: (asexually/sexually in a lifecycle).
multicellular 1. FAVOURABLE (asexual): spores will be released into environment  Spores attach to suitable substrate and germinate/divide by
. Masses of mitosis forming a new hypha. Numbers increase quickly. (Haploid spores are generated from diploid sporophytes through meiosis).
fungal 2. UNFAVOURABLE: spores will form into haploid gametophytes, fertilisation produces zygotes (Plasmogamy: fusion of protoplasm 
filaments Karyogamy: fusion of nucleus  Meiosis: nuclear division) → Sexual.
with spore FRAGMENTATION: pieces of fungal colony break off into 2+ fragments/become separate colonies which develops into multicellular clones.
structures. BUDDING: uneven division of the cytoplasm. Nucleus of a fungal cell divides (a small outgrowth) and splits off unevenly from the rest of the cell
by cytokinesis. As the bud enlarges cell replicates its DNA. The nucleus then divides its genetic material, and one copy moves into bud.
COMPLETE: separation  new cell. INCOMPLETE: Bud stays attached to the mother → Keeps budding → hyphae → mycelium
BACTERIA: Binary fission: diploid mother cell splits into 2 genetically identical diploid daughter cells. E.g., amoeba. Rapid cell divisions ensures continuity.
prokaryotic 1. A cell grows, reaching the limit of its SA:V.
organisms 2. Organism replicates nucleoid/plasmid DNA (supercoiled). DNA attaches to opposite ends of cell membrane.
3. A range of proteins accumulate at the centre of the cell and play a role in pinching off the cytoplasm.
4. A new cell wall is synthesised in area of cleavage and splits into two cells with identical genetic material.
PROTISTS Uni/eukar. e.g., algae. BINARY FISSION: same as bacteria but without cell wall. + BUDDING: uneven division of the cytoplasm.
INTERNAL/EXTERNAL FERTILISATION: fusion of gametes in sexual reproduction.
 Internal fertilisation: Union of male/female gamete inside female’s body e.g., land-based animals.
 External fertilisation: gamete union occurs in external environment e.g., aquatic environments- gametes are released into water.
Characteristic Internal (involves copulation) Both External (spawning- broadcasting gametes)
Fertilisation In female reproductive system Sperm fertilises egg In external aquatic environment
Chances of fertilisation High; shed into confined space. proximity increases chance Low; shed into a large space.
Result Zygote Requires watery medium Zygote
Breeding frequency Low, seasonal e.g., Reptiles, birds environmental conditions High e.g., Fish, amphibians
No. of offspring Small (but survival rate is high) High (but survival rate is low)
Gametes Released Large number of sperm, small number of eggs Large number of both
Parental care Yes; care of zygote during development/after birth. None
Spawning is timed to seasons, lunar cycles or other environmental events, Courtship is followed by copulation (brings parents closer to each
other to increase chances of fertilisation). Sponges/corals are immobile does broadcasting spawning. Water movement carries gametes away
to increase gene combinations/colonise new areas. Survival is low because of predation, destruction by wave action/weather.
Advantages Disadvantages
Internal ✓ Increased likelihood of fertilisation (close proximity) × Fewer offspring produced (biologically expensive).
Fertilisation ✓ Less gametes produced, reduces energy × Mating rituals = time consuming/postpone copulation
✓ Offspring greater chance of survival (predator protected) × Fertilisation, gestation and parental care demand energy.
× Breeding is paused for gestation (pregnancy)
External ✓Greater number of offspring are produced (higher genetic diversity) × Many gametes must be produced. High energy.
fertilisation ✓ Can continue without pause for gestation × Only occur in aquatic environments.
✓ Offspring are dispersed, less competition + no energy spent on care × Gametes are more susceptible to the risks.
FERTILISATION, IMPLANTATION, PREGNANCY/BIRTH:
Uterine cycle: changes in endometrial (mucous membrane lining uterus, thickens in preparation for implantation) lining.
Hypothalamus: interface between the nervous/hormonal system.
FERTILISATION: union of 2 haploid gametes in gonads  zygote. Unique genetic combination. Sperm deposited 24-72hr after ovulation.
1. Sperm enters the vagina during intercourse passing through the cervix. Swim through the cervical mucus which is thinned to a more-
watery consistency. Women’s immune system, destroy sperm. Sperm swim through both fallopian tubes. Cilia (trap sperm) pushes
the egg toward the uterus. Reproductive tract causes the sperm heads to change making the sperm hyperactive swimming harder/
faster attracted to the egg by chemical signals.
2. Sperm must push through the corona radiata (layer of cells around egg), to reach the Zona pellucida and attach to sperm receptors
on the surface (triggers acrosomes (tip of sperm head) to release hydrolytic enzymes enabling the sperm to digest zona pellucida).
Sperm making 1st contact will fertilise egg. Cell membranes of the sperm/egg fuse pulling sperm inside. Triggers cortical reaction.
3. Enzymes from cortical granules undergo exocytosis + release contents. Zona pellucida hardens to block polyspermy (correct 2n no.).
4. Fusion of haploid gametes form a diploid zygote (Fertilised egg, diploid). Tightly packed male genetic material spreads out, creating
the male pronucleus. Female pronucleus also contains 23 chromosomes created. 2 nucleuses of egg/sperm undergo mitosis.
EARLY EMBRYO DEVELOPMENT:
5. Embryo (day 10/12 to 8th week). Day 0: pronuclear. Day 1-3: cleavage: First it divides into two cells. Day 4: MORULA: Solid ball of 16
specialised cells. Day 5+ (BLASTOCYST): As the cells continue to divide, they begin to move towards outer edges of the ball, until it
becomes a hollow ball of cells.  Hatching: out of its zona pellucida.
6. Implantation (8-9): fallopian tube sweeps blastocyst (32 cells) towards uterus, undergoing mitotic divisions. Secretion of chemokines
attract blastocyst which burrows in uterine wall- endometrium. Adhesion molecules: adhesiveness between embryo/endometrium.
7. Cells continue cell division; 3-4 blastocyst cells develop into inner cell mass (protective ‘bag’); remaining cells form trophoblast.
8. Foetus: embryo develops bone and tissue (8+ weeks)
Hormones of pregnancy: Embryos produce human chorionic gonadotropin preventing corpus luteum from degrading, stimulating progesterone
and maintaining a thickened endometrium. 12 weeks: placenta fully developed, takes over hormone production (corpus luteum degrades).
Hormone Secreted by Active period Effects on pregnancy and foetal development
Progesterone Early – Slowly rises Increasing blood flow to the womb. Stimulating glands in the endometrium to produce nutrients that
MAIN corpus during sustain embryo. Stimulating endometrium to grow/thicken (for implantation). Preventing womb
luteum in pregnancy muscles contracting until labour. Preventing lactation until after pregnancy. Strengthening pelvic wall
ovary muscles for labour. Ensures uterus is prepared; support development of placenta.
Oestrogen Later - Slowly rises Maintain, control, stimulate production of other hormones. Development of many foetal organs.
placenta during Stimulating the growth/correct function of placenta. Promoting growth of breast tissue, preparing
pregnancy mother for breastfeeding.
HCG (secreted Placenta increases rapidly HGC used to support development of corpus luteum/stimulate hormones (responsible for producing
by 12 weeks- lower pregnancy hormones- first trimester). High in early pregnancy (highest at 12 weeks) but once the
trophoblast) concentration. placenta takes over to produce hormones, HCG no longer needed. Used in pregnancy tests.
OVULATION: series of natural changes in hormone (chemical messengers responsible for communication between organs/tissues to regulate
physiological processes. Secreted by glands) production/structures of uterus/ovaries in prep for pregnancy.
hormone produced role
Follicle Simulating horome Pituitary Causes egg to mature in ovary. (maturation of follicles) Stimulates the ovaries to release oestrogen
Lutenising horome gland Triggers ovulation (release of mature egg).
Oestrogen Ovaries Stops FSH being produced (so only one egg matures). repairs, thickens, maintains lining. Stimulates release of LH.
Progestrone Maintains lining of uterus during middle part of the menstrual cycle/pregnancy
Ovulation: ovary releases a ripe egg. In ovary there are follicles: hollow ball of cells with an immature egg in the centre.
 1. Days 1-7: FSH rises, causing follicle cells to develop/boosts oestrogen into blood stream to prepare uterine lining.
2. Day 7: Follicles stop growing/begin to degrade except for one which grows/nourishes developing egg inside.
3. Day 12: Follicle secretes large amount of estrogen into blood  reaches pituitary gland  releases surge of LH into blood  follicles
undergo growth spurt. Egg detaches from inside follicle releasing chemicals, causing 1 of 2 fallopian tubes to surround follicle.
4. LH inhibits FSH and oestrogen production. LH causes dominant follicle to swell up + burst open ejecting the egg and fluid into the
abdominal cavity. Fimbriae sweep across the ovulation site and pick up egg, transporting to the entrance of the fallopian tube.
5. Follicle remnants develops into corpus luteum (temporary endocrine structure producing progesterone/oestrogen).
6. LH/FSH production inhibited by progesterone. Prevents 2nd egg being released. Endometrium thickens.
** LH and FSH spike when follicle ruptures. Progesterone spikes when the corpus luteum is largest. Oestrogen spikes at both these times
BIRTH: offspring + placenta (tissue connecting blood systems delivering nutrients/oxygen) moves into external environment. Positive feedback
in labour: process which enhances action. Baby head puts pressure on cervix which stretches  stimulates nerve impulses to brain  triggers
hypothalamus to cause pituitary to release oxytocin  increases uterine contractions  pushes baby against cervix born. Hormones:
Hormone Secreted by Active period Effect
Oxytocin Pituitary gland Levels rise at onset of Causes regular contractions, creates positive feedback loop until birth. Triggers
labour release of prostaglandins: released by placenta causes cervix to dilate/contractions.
Prolactin Increase during pregnancy, Stimulates milk production and enlargement of mammary glands
peaks at/after birth
Relaxin Early- corpus luteum Quite high in the first Inhibits uterine contraction preventing premature birth. Relaxes pelvic joints/blood
Later - Placenta trimester then quite stable vessels, increase blood flow to placenta.
LACTATION: production of milk from mammary glands to sustain offspring (production stops with decline of prolactin). High levels of oestrogen
before birth stimulate production of prolactin (positive feedback)
CELL REPLICATION
Chromosome Tightly coiled threadlike structure of nucleic acids/protein found in nucleus, carrying genetic information via genes. Passed from parent to
offspring. Maternal/paternal chromosomes in a homologous pair have same genes at same locus, but different alleles.
Histones act as spools around which DNA winds to create structural units (nucleosomes).
Chromatin material of which the chromosomes are composed (protein, RNA and DNA).
Chromatids one of the two identical halves of a chromosome that has been replicated in preparation for cell division.
Homologous paired 2 copies of each chromosome which carry the same genes (1 from each parent); each pair are same size/shape/code for same traits.
Linked genes Genes on same chromosome = more likely to be inherited together.
Crossing over homologous chromosomes which have duplicated forms a chiasma which exchange alleles in a tetrad then move to the equator of the cell.
Random Segregation: Random in terms of what pair ends up where.
Spindle fibres microtubules which attach to centromere of chromatids. Shortened during anaphase enabling chromosomes to move apart.
CELL CYCLE: (mitosis + interphase) series of events that occur in the life of eukaryotic cell. Interphase (90%): time of high activity between cell
divisions: DNA is replicating, and cell components are being synthesised. Nucleolus is visible, but chromosomes are not individually visible.
 G1- growth: in prep for mitosis e.g., producing proteins, cytoplasmic organelles. Most cell growth occurs. Makes sure the cell is fully
functional. Some differentiated cells leave the cell cycle. SA: V decreases
 S- DNA synthesis: Grows to point of not being able to function well, chromosomes are copied/replicated  ensures cells have
correct amount of DNA.
 G2- growth and preparation for mitosis. Detection of mutations/correction of errors.
 M-Mitosis/Cytokinesis: cell splits into two new daughter cells.
*GO Phase: resting stage can be where some cells reach their mature form (or can later leave) e.g., nerve and heart muscle*
Checkpoints: Proteins keep the steps of the cycle in order/operating normally.
 G1: integrity of DNA is assessed or else it can either repair/kill itself.
 G2: chromosome duplication is assessed; Triggers mitosis/makes sure chromosomes have been replicated and DNA is not damaged.
 M: DNA damage point to check if sister chromatids are correctly attached before anaphase. *faulty division = tumour*

MITOSIS: process during cell division where the cell nucleus divides producing two identical diploid cells (2n) with a full set of chromosomes).
Rare Errors occur. Location: Somatic cells. Function: Growth e.g., root/hair, repair, maintenance (when cells are damaged/worn). Essential to
increase cells becoming multicellular (zygote to embryo). Lower skin cells divide constantly, nerve may never divide.
 Prophase (longest phase): chromatin condenses into chromosomes and become visible. Nuclear membrane dissolves. Replicated
DNA coils into sister chromatids joined by centromere.
 Metaphase: chromatids line up along the central of the cell and the spindle forms/connect the centrioles to the centromeres.
 Anaphase (shortest). Pair of chromatids separate at their centromere. As each one is pulled spindle fibres as the fibres
shorten/contract. Chromosomes are pulled to opposite poles of the cell (no longer chromatids). Plant cells do not have centrioles.
 Telophase: spindle disappears, the sets of chromosomes at the poles condense, nuclear membrane)/nucleolus reform around each.
 Cytokinesis: cleavage furrow begins at the centre, cell membrane constricts with the help of a contractile ring of microtubules and
microfilaments, until they are separated into two segments. Plants (rigid cell walls): a cell plate forms by coalescence of tiny vesicles.
INTERPHASE PROPHASE METPHASE ANAPHASE TELOPHASE CYTOKINESIS
 MEIOSIS: gametes are produced, resulting in 4 genetically unique (Result of: crossing over, independent assortment/random segregation)
daughter cells with n chromosomes (each gamete cell receives 1 chromosome of each homologous pair). 2n  n  n (gametes)
1. Interphase: Chromosomes are coiled together; cannot be seen individually (chromatin material). DNA replication takes place.
2. Prophase 1: Chromosomes with 2 chromatids (contains 2 sets of chromosomes; have replicated/condensed) appear, forms a tetrad.
a. Crossing over: non-sister chromatids randomly cross over/exchange maternal/paternal alleles across chiasma.
b. Chromosomes are arranged in homologous pairs. Nuclear membrane dissolves. Centrioles move towards poles.
3. Metaphase 1: Independent assortment: Homologous pairs of chromosomes line up in double file along the cell's equator and attach
to spindle fibres. The arrangement is random.
4. Anaphase 1: Spindle fibres separate each tetra and pull chromosomes to the opposite poles. Random segregation: Chromosomes of
the homologous pairs move to the poles independently of each other  unique combination.
5. Telophase 1: Nuclear division completes; one chromosome from each pair on each side; sister chromatids are no longer identical
cause of the allele exchange, nuclear membrane reform.
6. Cytokinesis 1: Cytoplasmic division completes. 2 haploid, non-identical cells are formed.
7. Prophase 2: membrane disappears, chromosomes condense moving towards equator.
8. Metaphase 2: Chromosomes line in a single file along the equator; spindle fibres separate (chromatids), forming chromosomes.
9. Anaphase 2: Spindle fibres contract, pulling chromosomes to opposite poles.
10. Telophase 2: Nuclear division completes. fibres disappears and the nuclear membrane reforms.
11. Cytokinesis 2: Cytoplasmic division completes. In total, 4 haploid, non-identical gametes are formed.
INTERPHASE PROPHASE METAPHASE ANAPHASE TELOPHASE CYTOKINESIS

WATSON AND CRICK DNA MODEL (1953)- during interphase: Came up with a model with a sugar backbone.
Deoxyribonucleic deoxyribose (has lost an oxygen atom; making backbone more stable/robust than RNA as oxygen is highly reactive) nucleic acid carries
acid heredity instructions/genetic material for the organism. Needs to last long for the continuity of species. Made up of 2 strands (made of
4 types of nucleotides) twisted around a double helix. Antiparallel structure, 3’ to 5’ prime direction. Strands go in opposite directions.
RNA: 1 strand (2) Ribose nucleic acid; doesn’t last as long because oxygen is highly reactive  more fragile. Doesn’t have thymine instead has Uracil
Ribose sugar has 5 carbons. More energy to split G, C then A, T
Deoxyribose monosaccharide; Five-carbon sugar component of DNA
Antiparallel Strands: DNA double helix strands are antiparallel they have the same chemical structures but in opposite direction.
3’ and 5’ number of carbon atom in a deoxyribose sugar molecule to which a phosphate group bonds.
Nucleotide organic molecules. Basic building blocks of DNA/RNA. Nitrogenous base + phosphate group + (ribose/deoxyribose) sugar = Nucleotide
Nitrogenous Bases: undergo the complementary base pairings: Adenine and Thymine- 2 hydrogen bonds, and Guanine and Cytosine with 3 bonds.
History of the DNA model: double helix structure with a backbone made of sugar and phosphate with nucleic acids/nitrogenous bases.
Watson and Crick: Showed: double-stranded molecule could both Franklin (x-ray crystallographer- created Photo 51 demonstrated the double-helix
produce exact copies of itself and carry genetic instructions. structure)). Wilkins: produced DNA crystals (using X-ray diffraction images of DNA.
DNA REPLICATION (EUKARYOTES in the nucleus during interphase):
Topoisomerase Relaxes the strand in front of the replication fork, stops super coiling.
helicase disrupts the hydrogen bonds holding 2 strands of double-stranded DNA together (unzips DNA).
DNA polymerase Add 5’  3’ to the leading strand. Other lags behind, and primers have to keep being placed. ALSO Proof reads (1).
Primase 5’  3’ synthesizing short RNA sequences that are complementary to a single-stranded piece of DNA, which serves as its template.
Leading strand runs in a 5’3’ direction towards the replication fork DNA is added to continuously.
Lagging strand single DNA strand that runes from a 3’ to 5’ direction. DNA is added in discontinuous chunks (Okazaki fragments).
Exonuclease Knocks out the primer.
DNA ligase Glues the DNA fragments together using ATP to form bonds.
Structure: long molecule with 2 strands twisted together in a double helix. DNA backbone is made of alternating sugar/phosphate units. Free
nucleotides in nucleus attach to the exposed bases on either strand by the enzyme DNA polymerase.

INITIATION: Topoisomerase relaxes the twisted DNA helix + Helicase uncoils and separations complementary strands
ELONGATION:
1. Leading strand: DNA polymerase (III) adds nucleotides segments in the 5’ → 3’ towards the replication fork. DNA polymerase also
proofreads the strand to correct any base pair errors + Ligase seals the gaps between DNA.
 1.Lagging strand: RNA polymerase adds RNA primer to the strand, allowing DNA polymerase to bind. DNA polymerase (III) adds
Nucleotides next to the RNA primer in okazaki fragments. DNA polymerase (I) replaces RNA primer with DNA and corrects any pairing
errors + Ligase seals the gaps between DNA. RNA primer moves to the next area, and the cycle repeats.
TERMINATION: Strand recoils. The 2 new DNA strands each contain 1 old template strand and 1 new strand (semi-conservative replication)

DNA and Polypeptide Synthesis: Gene/Genotype  gene expression/protein synthesis  trait

PROKARYOTE; unicellular/more primitive. EUKARYOTE: more complex, membrane bound e.g., golgi bodies.
DNA: Smaller, found floating in the cytoplasm in a dense nucleoid: regulatory Large/packaged into linear- thread like chromosomes inside nucleus with
centre of prokaryotic cells regulating growth, reproduction and function). Has 1 a double-layered membrane. Tightly bound to 8 histone proteins:
chromosome: circular + double-stranded DNA coding for proteins (tightly positively charged amino acids bind to negatively charged phosphates
supercoiled around central scaffold protein to form nucleoid). Genome is compact forming nucleosomes (condensed into chromatin). A large amount of
with little introns. Much less DNA/genes. Most don’t have histones. Have 1+ small repetitive DNA. Contains noncoding DNA (98%)/introns: nucleotide
circular plasmids (coding for not essential features- selective advantage). Undergo sequence within a gene that controls gene expression. NO plasmids but
binary fission. Genes cluster into functional groups (operon regions) e.g., E. coli contains Non-nuclear DNA e.g., Mitochondrial/Chloroplast. Multiple
(bacterium) No membrane-bound organelles. Conservative replication. chromosomes per cell. Semi-conservative replication. Undergoes mitosis.
SIMILARITIES: same chemically. Double stranded DNA, twisted into a double helix and built from the same nucleotides (genetic code is
universal allowing plasmids as vectors). Have mRNA: acts as a code for building proteins with uracil (U). Way mRNA is translated into amino
acids and proteins is the same. Undergo replication.

DIFFERENCES: structurally different affecting the way in which genetic information is transcribed, translated, and expressed. Prokaryotic cells
are highly efficient because of space constraints mean there is little noncoding DNA (12%) as opposed 98% in eukaryotes.
 Eukaryotic: chromosomes confined to nucleus. mRNA molecules are transported to cytoplasm for protein translation. Prokaryotes
(most reproduce asexually): No nuclear membrane to separate DNA from ribosomes. Transcription and translation occur
simultaneously. Contains plasmids (small circular, double stranded DNA molecule encoding nonessential genes. DNA
fragments/genes can be inserted into a vector, creating a recombinant plasmid; factories to copy DNA fragments).
Feature prokaryote Eukaryote
Coding sequence mRNA sequence contains coding sequence for multiple genes. mRNA contains coding sequence for one gene only.
RNA processing Rarely required (few introns to be spliced) Removes introns so only exons are translated.
POLYPEPTIDE SYNTHESIS: converts DNA information into a chain of amino acids which then join together to form a protein (1+ polypeptide
chain joined together by peptide bonds). DNA (too big) cannot leave the nucleus because that would risk it getting damaged. Instead, it is
transcribed to mRNA which will relay the instructions.
 IMPORTANCE: for creating proteins to carry out different functions. Creates enzymes that control different biochemical pathways
inside cells (cellular respiration). Forms products to carry out replication, transcription, and translation. Needs to be accurate.
Ribonucleic acid: Single helix made of A, G, C and Uracil, Ribose sugar. Converts DNA information into proteins, doesn’t replicate. rRNA:
ribozyme needed to carry out protein synthesis in ribosomes.
 mRNA/tRNA: Transcription: mRNA (holds information for precise synthesis of protein which is decided by codons) forms from
template strand read by RNA polymerase  sent out through the nucleic envelope towards the ribosomes. Without mRNA, the DNA
code specifying the sequence of amino acids would not form. Translation: tRNA carries amino acids (backbone of proteins) onto
polypeptide chain. Without tRNA, the mRNA sequence could not be converted into amino acids.
mRNA (messenger RNA) tRNA (Transfer RNA)
Are single stranded RNA (transcribed from DNA) which carry Single stranded nucleic acid folded into a three-loop structure with an anticodon (three
information from DNA to ribosomes to instruct amino acid assembly bases complementary to a mRNA codon) corresponding to an amino acid. Carries amino
to make specific proteins. 3 mRNA bases = 1 codon carrying. acids to the ribosome. Each individual tRNA has a unique amino acid binding site.
DNA doesn’t leave nucleus; gene sequence transcribed into mRNA. tRNA translates mRNA sequence into amino acids for protein synthesis.
transports genetic code from nucleus to ribosome. carries amino acids to ribosome. Matches correct anticodons to codons for synthesis.
TRANSCRIPTION (nucleus): genetic information is transferred from a double helical DNA to a single stranded mRNA. Necessary for translation.
1. Initiation: RNA Polymerase binds to the ‘promoter.’ DNA double helix unwinds (hydrogen bonds between base pairs are broken)
forming a transcription bubble. ‘non-coding’/template (3’ to 5’) has the genetic information to make a protein, the other is the
coding/antisense strand (5’ to 3’). Only a certain length uncoils.
2. Elongation: RNA polymerase adds free ribonucleotides in nucleus to their complementary DNA nucleotides along template strand.
3. Termination: RNA polymerase continues to add ribonucleotides until it reaches a stop sequence creating pre-mRNA. RNA
polymerase detaches from DNA. Base pairing is restored. DNA twists back. Completed mRNA moves out of nucleus into cytoplasm.
4. Modification: Non-coding DNA (introns) are cut out via splicing (spliceosome) and coding regions/exons are joined together (by
ligase) to create mature mRNA (can pass through the pores in the nuclear membrane). mRNA exposed to cytoplasmic environment is
at risk of being destroyed by cytoplasmic enzymes. To avoid: 5’ end gets a methyl guanosine cap. 3’ end gets a poly (a) tail.

TRANSLATION: occurs in ribosomes (in cytoplasm/attached to endoplasmic reticulum). Each codon codes for a specific amino acid.
1. INITIATION: small ribosomal subunit binds to the start of the mRNA sequence. tRNA carrying methionine on the anticodon and binds
to the start codon (AUG) beginning the amino acid sequence.
2. ELONGATION: ribosome moves along the mRNA and keeps adding amino acids based on codon. tRNA of the next codon lands and a
peptide bond is created between amino acids. Cycle continues as chain elongates. Ribosome has 3 sites: A (new tRNA molecules
enter), P (peptide bonds are formed). E (empty tRNA molecules exit the ribosome).
3. TERMINATION: chain keeps elongating until a stop codon is detected releasing polypeptide chain from the P site. Amino acids then
folds into a protein. mRNA is broken down into individual nucleotides to be reused.
Environment on Phenotypic expression: conditions e.g., light/nutrient availability, will affect that appearance of an organism (internal/
external anatomy, behaviour and physiology) and the appearance of individual cells. PLANTS: Hydrangeas: PH less than 5: blue and alkaline:
 pink. pH causes a change in active site shape of an enzyme, increasing/decreasing its binding with the substrate. REPTILES: gender is
determined by temperature during egg incubation period (80-90 days). Thermosensitive period is between 25-50 days (influences expression
of sox9 gene  sex determination). Saltwater crocodile eggs: 32+ = male, 31- = female.

GENOTYPE: genetic constitution of organism (a particular set of alleles) affects phenotype. Gene: section of DNA with a specific sequence that
codes for a particular trait. Skin colour is affected by amount of melanin genes produce (more melanin = darker skin/more protected from UV).
Genes will only express traits if environment is suitable. Genes on phenotypic expression: Dominance, incomplete dominance, codominance.

GENE EXPRESSION: translation of genes into their protein products from a specific code. Genes are turned on/off so that they are able to
differentiate and perform specialised functions.
1. DNA Transcription: In eukaryotic cells, genes have promoters, which may be activated by presence/absence of a chemical. Control
elements (DNA sequences that regulatory proteins bind to) bind to transcription factors influencing whether mRNA elongation
continues/terminates. If production/binding of transcription factors is affected, gene expression will be affected.
2. Translation: can be blocked if specific proteins bind to the mRNA so that it cannot attach to ribosomes. After translation: protein
product made from mRNA may be inactive until a chemical is added/removed.
3. Protein Processing/Degradation: polypeptides must be processed (folding, cleavage, or addition of non-protein sections;
carbohydrates/lipids) then transported to produce functional proteins. Regulation may occur if any of these steps is inhibited.
Defective/damaged proteins are degraded.
4. Regulation of mRNA: Before the mRNA leaves nucleus, splicing (controlled by regulatory proteins) occurs. To change expression of
genes different introns/exons are cut out producing different mRNA molecules from the same RNA transcript. Introns can regulate
length of time for which mRNA remains stable. Longer lasting= more protein produced. mRNA degrades more quickly = less protein.
Epigenetics: chemical modifications to histones/chemical structure of DNA affect density of DNA binding/change gene expression. Gene
tagged with methyl group  DNA becomes more tightly coiled around histones repressing transcription as DNA is inaccessible to RNA
polymerase (switched off). Acetyl group  DNA more loosely packed (easily accessible for RNA polymerase- enzyme that catalyses chemical
reactions that synthesise RNA from DNA template) around the histone proteins, allowing transcription to occur (gene ‘switched on’/increased
polypeptide synthesis). Influenced by diet, emotions, environmental conditions. Rats: mother licking baby makes them less anxious.
Ribosome structure inside cells that is involved in making proteins, help to link amino acids together.
Coding strand DNA strand whose base sequence is like its primary transcript (RNA)
Template strand DNA sequence that can duplicate itself during mRNA synthesis. Uses a non-coding DNA sequence as a template (mRNA).
Codon Set of 3 sequences of bases give the instructions for the type of amino acids.
Anticodon a trinucleotide sequence located at one end of a tRNA, which is complementary to a corresponding codon.
PROTEIN (macromolecules): important structural components of cells, cell membranes and tissues, made from amino acid. Organic compound
containing a carboxyl and amino group. Chemical structure: C, H, O and N, combining to form amino acids held by peptide bonds into
polypeptides. Hydrophobic amino acids: have carbon-rich side chains- don’t interact well with water. Hydrophilic AA act well with water.
 PROTEIN FUNCTIONS: specific amino acid sequences give proteins their distinct shapes and chemical characteristics. Shape is
important because many proteins rely on recognition of specific 3D molecular shapes to function.
Cell communication/signals: receive, process and transmit signals which are received by receptor proteins. Neurotransmitters, or hormones (chemical
messengers between cells about environment which triggers responses in the target cells functioning).
Biological recognition: identify cells as self or non-self. E.g., Antibodies: defence proteins recognise foreign invaders by their antigens and bind with them.
Enzymes: Bind with substrates to speed up biochemical reactions/cellular metabolism. Shape of active site determines binding. Important in gene
functioning, replication, repairing and transcribing. E.g., Amylase: begins the breakdown of carbohydrates in salvia.
Regulatory: Control DNA replication and turn on genes.
Sensory: proteins change their shape/biochemical activity in response to stimuli. Detects light, sound, touch, smell, taste etc. Opsins in retina detect light.
Structural: forming structure of cells. Found in connective tissues allowing for structure/support e.g., collagen in skin OR contractile proteins allow movement
e.g., actin allow muscles to contract.
Transport: assist in the movement of substances. e.g., Haemoglobin attracts oxygen and releases it at areas of low concentration.
Storage: serve as biological reserves for metal ions/amino acids. Bind to and carry/store chemicals. Ferritin forms a hollow shell that stores iron.
Growth and repair: repair/build body's tissues, allows metabolic reactions to take place and coordinates bodily functions.
STRUCTURES: proteins are made from the 20 amino acids. Having the correct shape is vital to be able to recognise/bind to specific molecules.
Primary A polymer of amino acids arranged in polypeptides. Sequence defines how the protein will fold/function. Primary determines all others.
Secondary 3D arrangement of polypeptide chain twisting into a spiral (alpha helix- coiled structural arrangement of proteins stabilised by hydrogen bonds)
or folding into a pleated beta sheet (beta strands connected laterally by 2-3 backbones of hydrogen).
Tertiary Folding of secondary structure (alpha helix/beta sheets) into distinct 3D arrangement, compact globular shape, with many carbon-rich amino
acids inside. E.g., haemoglobin includes a pocket to hold heme.
Quaternary 2+ polypeptide chains can come together to form 1 functional molecule with several subunits. 4 subunits of haemoglobin cooperate so it
delivers more oxygen.
PROTEIN CLASSIFICATION:
FIBROUS (long/narrow w/ repetitive amino sequence) GLOBULAR (spherical w/ irregular amino sequence)
Purpose Form Structural components of cells and tissues. Functional
Durability Less sensitive. More sensitive to changes in pH, temperature etc.
E.g., Usually found in tendons/ligaments. Collagen: in skin. Keratin: hair/nails. Usually transportation proteins e.g., haemoglobin, insulin, Enzymes
 Within a population (intraspecific): Similarities show common ancestry, Differences show genetic diversity due to genetic variation.
 Between populations (interspecific): Similarities show evolutionary relationships, Differences show species diversity due to variation.
Heredity set of characteristics that living things inherit from their parents; passed down by the DNA.
Genotype combination of alleles present in an organism.
Genome complete set of genes or genetic material present in a cell or organism.
Phenotype Appearance/set of observable traits of an organism and based on the genotype (structure, behaviour, physiology).
homozygous having two of the same alleles for a trait eg. AA, tt, BB or ee
heterozygous Two different alleles present in the genotype eg. Tt or Aa
Recessive allele allele that will not be expressed when present with the dominant allele.
Polygenic inheritance: determined by more than one gene and by the interactions among the different alleles of these genes. E.g., height
In diploid organisms, chromosome exist as homologous pairs, each having a copy (allele) of a gene at every locus. The genotype is the
combination of two alleles for a particular gene. Dominant/recessive: pea plants: round allele (R) is dominant over recessive wrinkled allele (r).
 Punnett squares: determines the likely genotypes/phenotypes of offspring or parent based on observed phenotype of offspring.

Multiple allele inheritance: occurs when there are 3+ possible alleles for a gene. Individual will only have 2 alleles at a locus. E.g., Blood
groups: 3 alleles IA, IB, I  6 genotypes (IA i, ii, IBi, IBIB, IA IA, IAIB)  4 phenotypes (A, B, AB (codominant), O (recessive)). Blood has proteins on its
surface, O can give to everyone/receive from O, B can accept B blood type, AB (express both sugars (A/B) on their surface) receive all blood.
Sex-linked Inheritance on germline cells where genes are on sex chromosome (23rd). X-chromosomes can be dominant or recessive, whereas Y are
characteristics always recessive. A female can be a carrier and males cannot AND males only have to inherit a single gene to have the characteristic. For
recessive: Diseased: Xe Xe AND Xe Y. Normal: XE Y AND Xe Xe. Carrier: XE Xe. OTC deficiency: X-linked recessive condition caused by mutation in
OTC gene on X chromosome (usually breakdowns/removes ammonia). Disease = doesn’t break down ammonia = brain damage & death.
Co-dominance + Codominance: both alleles are fully expressed in phenotype (heterozygote). Red-white hair in Roan cattle (CR C W). (RR) x (WW) = all (RW).
Incomplete Incomplete: neither allele is expressed fully in the phenotype instead a 3rd phenotype with blended characteristics is seen. 3 phenotypes
dominance: from 2 alleles. E.g., flower colour in snapdragons. E.g., red (RR) x white (WW) offspring will pink flowers (RW).
Pedigree to determine: 3 different phenotypes are present, If both parents are heterozygous offspring can have any 1 of 3 phenotypes.
Allele variations of a gene at particular locus.
Autosomal trait coded by a gene located on a non-sex chromosome (1-22). Note: heterozygous for recessive = carrier.
 Autosomal (AS) recessive: autosomal inheritance relates to genes that are on non-sex chromosome (equal likelihood trait will be
observed both sexes). E.g., sickle cell anaemia. Both parents of an affected person must carry at least 1 copy of recessive allele.
 AS dominant: Affected offspring always have at least 1 affected parent & at least one copy of dominant allele e.g., Huntington’s
disease. When 2 parents have a trait and their offspring doesn’t, both parents must be heterozygous, trait must be dominant.
nondisjunction incorrect separation of chromosomes during meiosis that results in cells with extra/missing chromosomes
PEDIGREES: chart that shows phenotypic expression of a chosen trait. Used to determine inheritance, genotypes and phenotype likelihood.
1. Is there anyone whose phenotype is different to both parents?
a. Yes, then that person is homozygous and the parents are heterozygous
b. Do they exhibit the trait: YES: homozygous recessive. NO: dominant allele.
2. Determining sex-linkage: males are more likely to be affected, if the mother has the trait, her sons will have the trait. If a daughter
has the trait, the father must also have it, and mother either has it or is a heterozygous carrier.
X-linked dominant Male with trait: Passes onto all daughters but no sons. Female with trait: Passes to both daughters and sons
X-linked recessive Male with trait: All daughters are carriers Female with trait: All sons are affected
MEDELIAN INHERITENCE: patterns can be observed in Gregor Mendel’s cross breading of peas. Mendel created ‘pure bred’ (homozygous)
plants for each characteristic, which he crossed. From the resulting phenotype of the offspring (F 1 generation), he was able to determine which
‘factor’ was dominant (100% of the first generation of offspring is tall). Mendel observed the offspring of an F1 cross always produced offspring
(F2 generation) in a 3:1 phenotype ratio. Mendel’s dihybrid cross experiments always produced offspring in 9 (round):3(round):3(wrinkled):1
(wrinkled) phenotype ratio. Patterns cannot be observed in more complex traits.

SINGLE NULCEOTIDE POLYMORPHISM: point mutation (usually due to an error in DNA replication) that is present in more than 1% of the
population (biological markers helping scientists to identify alleles associated with specific diseases/determine ancestry). Each individual has
two copies of each SNP (occur every 300 nucleotides), one on each homologous chromosome.
 Genome-wide association studies: large scale collaborative projects trying to identify specific markers (SNPs) associated with an
increased risk of developing particular disease. If a SNP is close to a gene it’ll be inherited together (linked). If one allele of a SNP is
overrepresented in the cases relative to the controls, this suggests that the SNP sits physically close to a gene contributing to the
phenotype of the disease. SNP analysis: much faster/cheaper compared to whole genome sequencing.
 Significance: looks for trends in prevalence of certain SNPs and disease susceptibility in individuals.
 Need large sample size for better confidence, the closer the genetic markers are on the chromosome, the more accurate the data.
Lactose tolerance- frequency data was used to identify a relationship between a specific SNP and the ability to consume dairy products.
Historically, the LCT gene that expresses lactase was ‘switched off’ after a child was weaned (lactose intolerance phenotype). Approximately
10000 years ago in Europe, a mutation (30% of population) occurred in the LCT gene that coincided with the domestication of livestock,
stopping the LCT gene from being ‘switched off’ allowing individuals to continue consuming dairy products (selective advantage- more chances
to increase nutrient uptake). Lactase persistence allele is dominant. Difficult to tell whether SNP causes or co-segregates with a disease.

Sequencing DNA: Polymerase Chain reaction: used to make copies of a particular region of DNA. The sample is used for gene cloning, DNA
sequencing/profiling. PCR can be used to clone a gene, used as a marker in DNA profiling studies or sequenced to identifiy genetic mutations
(disease/medicine, evolutionary studies). (1) Ingredients are placed into a PCR tube inserted into a thermocycler using variations in
temperature to control DNA synthesis (2) heat double stranded DNA to 95o breaking the hydrogen bonds. (3) Annealing: cool to 50-60o for 1
min, primers anneal to template strand. (4) Elongation: heat to 72o, polymerase synthesises new DNA. (5) cycle repeated many times.

Agarose gel electrophoresis: seperates segments of DNA bases on their size (length). Liquid agarose gel contains a dye that binds to DNA (and
is illuminated by UV light). The gel is submerged in a buffer and DNA samples are loaded into wells at the negative electrode. An electric charge
is applied, negatively charged DNA molecules travel through the pores in the gel towards the positive temerinal. The shorter fregaments
migrate faster/further. Can be used as a diagonostic tool. e.g., cystic fibrosis- Individuals have a single band that is 3 bp shorter.
 DNA sequencing: process of determing exact order of nucleotides in a segment of DNA. Main method (Sanger sequencing): similar to PCR.
Differences: (1) there is no exponential amplification. (2) in addition to the 4 dNTPs the reaction contains 4 dideoxynucelotide triphosphates.
Each ddNTP is modified with a fluorescent dye (C = blue, G = black, A = green and T = red) and they each terminate the reaction when they are
incorporated into the growing DNA strand. Each piece of DNA emits a colour as it passes the laser in a capillary electrophoresis machine.

Can be used to study the inheritence of disease-causing mutations or to create a phylogenetic tree (presents evolutionary relationships among
a set of organisms) to show the evolutionary relationship between species (scienfic research). Closer related species = more similar genetic
sequences. Takes long to gather details. Expensive. Used for diagnostics of disease.

DNA profiling: used to generate a specific DNA pattern of an individual that can then be matched to a known control. Relies on genetic
markers e.g., short tandem repeats/microsatellites. Number of repeats can vary between alleles. Paternity uses a single STR locus, as the
mother and father share an allele with a child. In a case with two potential fathers, it is noted that alleles can be shared by chance so
additionary STR locis should be tested. Can be used to match a suspect to a crime scene.
1. Take a sample of cells from the child, and possible fathers e.g., cheek cells, hair follicles. Extract the DNA .
2. Use a PCR to amplify regions of interest. Each DNA sample is seperatred using gel electrophoresis (larger molecules = slower).
3. The bands are analysed. By comparing the regions you can tell which individuals are related.

LARGE SCALE DATA SETS: allows for the scientific community to research, exploring patterns, trends/relationships.
Conservation management: gathering genetic data, for biodiversity conservation and to make informed decisions about protecting endangered
populations. SNPs have allowed scientists to identify segments of the genome that are essential for the organism’s adaptation to the
environment. Koalas are in serious decline suffering from the effects of habitat destruction with less than 58,000 Koalas left in the wild.
 Koala conservation method: A large number of wild koala tissue samples were obtained  mitochondrial DNA of each tissue sample
was analysed to determine the base sequence in a non-coding section of mtDNA.
 Results: haplotype network which outlined the genetic diversity of different groups was generated, and related back to regions the
koala groups were found in  converted to quantitative data comparing mtDNA CR sequences between koalas in different regions.
 Implications: allowed scientists to trace/compare lineage amongst different Australian koala groups to better understand
microevolution  helping them predict which groups are under threat + implementation of conservation strategies.

Disease Inheritance (SNPs): can be used in genetic testing to associate these genetic markers with the risk of inheriting genetic diseases. In
NSW, the newborn screening program provides free genetic tests for all newborns for SNPs associated with several diseases e.g. cystic fibrosis.
Large-scale genomic analysis has significantly influenced disease management through early detection and improved treatment options.
 Method: deleterious mutations of BRCA1/BRCA2 genes put women at a higher risk of developing breast cancer. A study involving
thousands of women was carried out to sequence genes to identify the prevalence of BRCA1 and BRCA2 mutations. The purpose was
to identify whether there was a link between ethnicity and mutation prevalence.
 Analysis/Results: mutations to the BRCA1/BRCA2 gene were identified in 12.5% of subjects. Results suggest a link between
ethnicity/inheritance of these mutations. The risk of developing breast cancer and ovarian cancer according to age was graphed.
 Implications: the analysis of large-scale genetic information has increased the accuracy of identifying patients at risk of certain
diseases. Health professionals can educate potential patients on preventative measures such as tumour detection techniques,
provide upport for the patient, and other methods to reduce the risk of developing the disease.
Human Evolution- Anthropology has utilised population genetics to help provide evidence to determine the pathways of human evolution and
explain the causes of human diversity. Models have found that the evolution of human genetic diversity has occurred over several hundreds of
thousands of year. There are 2 theories about human migration out of Africa. By comparing the differences in mitochondrial DNA (molecular
clock: mutates at a predictable rate) it is possible to determine the length of time from which they diverged.
 Results: African populations show greater MtDNA diversity than any other population providing evidence to support the
Replacement hypothesis, suggesting African populations are older than other populations and more time has passed for mutations to
occur. Molecular clock estimates modern humans evolved over 200 000 yrs ago in Africa & migrated out of Africa 70 000 yrs ago.
 Implications: Studying human genomes has changed our understanding/improved the theory of human evolution. Understanding
genetic diversity of the humans helps scientists to predict genetic patterns/our ability to survive in changing conditions.

Mutations (introduce new variations/alleles into a population): change in the genetic material of cell where nucleotide sequence in DNA is
altered.  potentially altering proteins (can be harmful- carcinogenic). Can be inheritable (germline) OR not (somatic). Causes: result of
random natural errors that are not corrected during cell replication/induced by mutagens. Neutral mutations occur in non-coding regions.
 Note: (purines (a/g)/ pyrimidines (c/t): chemical compound cells use to build DNA/RNA)
Chemical mutagens are chemicals that cause mutations (alters function of proteins/impairs cellular processes) if cells are exposed to them at high
Ingested chemicals/ frequencies/for prolonged periods of time. Mispairing of bases: Mutagens can be structurally similar to normal bases (Base
environmental analogues) so they may mistakenly substituted during DNA replication, a chemical insert itself into the DNA (Intercalating agents:
irritants (solvents) affect DNA synthesis), change how the bases pair (Alkylating agent: add alkyl groups) or makes a gap which remains/randomly filled.
Natural mutagens mutagenic agents present at normal levels within natural environments (mutation increases with length of exposure). Biological:
viruses/bacteria/microbes OR Non-biological: (metal). Transposons: DNA sections that spontaneously fragment & relocate/ multiply
in genome, disrupt DNA function. Bacteria cause inflammation (produce free radicals/reactive oxygen species- DNA damage).
Physical mutagens: Radiation: transfer of energy, ionising radiation: shorter wavelengths; when electrons pass through cells free radicals are released
ionising radiation/ which breaks strands of DNA leading to deletions/partial chromosome loss interfering with cell division, protein formation, cell
heat- HIGH ENERGY metabolism. Gamma rays: high energy breaks chemical bonds  mutations. EMR spectrum: energy transmitted in waves/particles
e.g., x-rays, infrared, over an expanse of wavelengths. UV-B produces pyrimidine dimers (cross linked nucleotides where two thymine/cytosine bases
UV radiation. become attached preventing them from pairing). DNA repair: damaged paired base is removed/replaced. DNA polymerase checks.
Spontaneous Arise randomly because of an error in a natural process E.g., replication errors.
 compare the causes, processes, and effects of different types of mutation:
 Point mutation: affects Single missense substitution point mutation in gene responsible for beta-globin in RBC. Alters 1 amino acid, changing protein/
only a single base haemoglobin structure causing RBCs to become hard/sticky/C-shaped, which reduce blood cells’ ability to transport oxygen. (Blood
pair/single gene. rupture/death). Germline cells/recessive. (GAG to GTG, valine is subbed with glutamic acid).
 Frameshift mutations: nucleotides are added/removed from a sequence, altering every codon from that point onwards.
Potentially alter amino acids from the point of impact. (Affects a single gene or a sequence of genes)
 Substitution: one nucleotide is replaced with another usually creating a different amino acid. E.g., Sickle cell anaemia.
Chromosomal - Missense mutations: point mutations that result in an amino acid change. e.g., sickle cell
mutation (down - Nonsense mutations: change amino acid to a stop codon (sequence after will not be translated), resulting protein is
syndrome): movement usually non-functional. May not have enzymatic activity, bind with other proteins, or cell may recognise it as abnormal.
of sections of a - Silent mutations: no change in amino acid/phenotype (redundancy of the genetic code).
chromosome to - Neutral mutations: produces same type of amino acid (group: changes amino acid but not protein function).
another part of the Non-disjunction- meiosis (2 copies of homologous chromosome do not properly segregate and end up in the same gamete,
chromosome/a leaving another missing the chromosome) causes polysomy- extra chromosomes copies. Results in excess proteins being made.
different chromosome  Duplication: region of chromosome is repeated/copied, causing increase dosage from genes/increased gene expression.
(chromosome  Inversion: segment of chromosome undergoes a breakage, rearranging itself/replaced in reverse order.
structure/number is  Translocation: segments of 2 chromosomes are exchanged (may interrupt gene sequences) OR piece of 1 chromosome
changed- multiple breaks off and attaches to a non-homologous chromosome. Balanced if no genetic material is gained or lost in the cell.
genes affected). Tasmanian Devil Facial Tumour Disease is an aggressive/contagious cancer. Somatic mutation. Spreads when living cancer cells are
Inheritance: is passed transferred from one devil to another via biting and growing as a tumour. Has multiple chromosome translocations, part 1 to 2.
down if present in  Aneuploidy: 1+ extra or missing chromosomes leading to an unbalanced chromosomes e.g., trisomy 21.
germline cells and TRISOMY 21 (down syndrome): caused by having an extra chromosome (21), which can cause the body and brain to develop
inherited. differently. Chances increases with mother’s age. Signs: Distinctive facial features, intellectual disabilities, Skeletal abnormalities.
 Polyploidy: possessing more than two complete sets of chromosomes.
Insertion: addition of genetic material changing DNA sequence by adding 1+ nucleotides  protein may not function properly.
 Point: one nucleotide is added, pushing the rest of the nucleotides back.
 Chromosomal: a piece of a chromosome is removed and added to another chromosome (interrupts gene sequence).

Deletion: loss of genetic material by removing at least 1 nucleotide (may alter protein function). E.g., Cri du chat syndrome caused by missing
pieces on a chromosome. Newborns have a high-pitched cry, and a small head.
 Point: 1 nucleotide removed in the sequence and moves the rest of the nucleotides forward.
 Chromosomal: a portion of a chromosome is lost (reduction of genes).

Somatic mutations: not passed onto next generation. Germline (source of new alleles/variation) in germ cells that give rise to gametes during meiosis.
Often spontaneous mutations may occur during S phase Can be passed down. Rarer due to the elevated levels of DNA repair enzymes. If the gamete
(should be repaired during G2 phase), mitosis causes survives to form a zygote the offspring will be heterozygote for that mutation in all cells. The
error to be replicated. Mutations might allow the cell not parent organism phenotype will not be affected, only the next generation.
to be able to function properly or cause cancer. E.g., skin Sickle cell disease: inherit 2 faulty haemoglobin genes ‘haemoglobin S.’ Mutation arose to help
cancer caused by mutations (UV rays) damaging DNA defend against malaria (heterozygous). Mutations that disable ANGPTL3 gene have low levels of
leading to uncontrollable cell growth- melanoma. cholesterol/have no plaque in coronary arteries (prevent heart attacks). Beneficial, withstand
EFFECT: negatively/positively affects ONLY the individual. stresses in environments increasing survival chances.
Don’t affect the gene pool. If a somatic mutation occurs EFFECTS: genetic variability and speeds up evolution. Sources of new alleles which can be
in a cell during the first few cell divisions, it can lead to a advantageous allowing for survival benefits. Redundancy in the DNA means mutations don’t cause
mosaic heterozygote. Only tissues derived from mutated new traits. Could make the protein a different shape/non-functional or cause medical conditions/
cells are affected. hereditary diseases.
Coding/non-coding: phenotype depends on the presence of particular proteins. In eukaryotes: 2% of DNA is coding and 98% is noncoding.
CODING: codes for a Sometimes mutations introduce new alleles, creating new potentially beneficial phenotypes (variation/adaptability). Significance:
specific sequence of exons (code for a specific protein, are transcribed/translated). Vital role in production of protein that control function of biological
amino acids; direct processes. Mutations: A single change will cause a disfunction, die or become cancerous (especially in DNA repair enzymes or tumour
effect on proteins/ supressing genes). Mutations have a direct effect on amino acids/ proteins, affecting phenotype (causes diseases/disorders e.g.,
phenotype. Huntington’s disease). Proteins could become dysfunctional. In eukaryotes affects DNA splicing thus modify function/levels of protein.
NON-CODING: Help regulate gene activity/control the action of regulatory proteins; thus mutations can affect gene expression causing genes to be
doesn’t code for expressed in the wrong place/time disrupting function of regulatory elements e.g., promotors. No impact on polypeptide synthesis.
proteins; have May have no effect (acts as buffer to minimise mutation effects). Includes Structural DNA (maintains chromosome structure),
regulatory functions. functional RNA (rRNA- binds to ribosomal proteins), and introns. May hold an evolutionary advantage. If occurring in a binding region
of an intron: correcting splicing will not occur, and polypeptide synthesis may be impacted (introns read as coding sequences causes
missense mutations; incorrect protein product made). In promoter/ terminator region: lead to over/under expression of proteins.
Mutations in areas preventing production of microRNA rRNA and tRNA halts polypeptide synthesis.
 investigate causes of genetic variation (helps individuals adapt to changing environment  increased alleles  increased survival).
FERTILISATION: Random fusing of gametes produced by meiosis. Increases genetic variation in individuals (new gene/allele combinations),
genetic diversity, and variability (improves ability of population to adapt to changes in the environment/improved survival). Can be increased
if there are greater number of alleles present as every sperm/egg are different. Zygotes receives half of genotype from each parent. Mixing of
genes/genetic material (dominant/recessive) resulting in production of traits that neither of the parents possess.

MEIOSIS: 4 haploid gametes form resulting in genetic recombination of paternal/maternal genes. Replication errors = point mutations.
 Chromosomal errors: crossing over goes wrong (or non-disjunction occurs in anaphase: when 1+ pairs of homologous chromosomes
don’t separate as they should  abnormal distribution of daughter chromosomes with different chromosome number), aberrations
may be introduced e.g., DNA may be inverted before it is inserted onto the arm of the corresponding chromatid.
  Unequal crossing over during Prophase 1 (meiosis): Alleles are exchanged between non-sister chromatids on homologous
chromosomes  new combinations of alleles.
 Random segregation: (Anaphase I) Alleles of same gene separate randomly and equally into daughter cells- get one of the 2 gene
copies randomly.
 Independent assortment: (Metaphase I) alleles of 2+ different genes get sorted into gametes independently of each other.

MUTATION (permanent changes to DNA sequence -somatic/germline): prime source of genetic variation by changing the sequence of
nucleotides in DNA creating new heritable phenotypes subject to selection (better survival change e.g., antibiotic resistant bacteria) and
evolution (OR removing them- resulting in decreased gene pool (detrimental/deleterious mutation). Neutral mutations = evolutionary ‘back
up’. Increases number of alleles for a trait/genetic variability (germline). Mutation often happens in DNA replication (during interphase 1 that
are not corrected), unequal crossing over, transposon (sequences of DNA capable of moving around the genome- may insert themselves in the
middle of a gene causing a frameshift mutation), or separation/disjunction of chromosomes. Mutagens cause aberrations in chromosomes or
genes which can be numerical/structural. Adding/removing of genes creates defective protein or might create a less functioning protein.
Hardy- Equation: a mathematical model of gene frequencies in a population. Assumptions: there are two alleles of one gene determining one trait. The
Weinberg allele frequency always adds up to 1. p = dominant allele, q = recessive allele (t). p2 +2 pq +q2 .
Natural mechanism of evolution. Organisms more adapted to their environment selection pressure are more likely to survive (with advantageous
selection characteristics) and pass on their genes. Occurs when there is variation in traits.
Population Genetics: study of how a population/gene pool evolves over time by looking at distribution of genetic variation/allele frequencies.
Gene pool: sum total of all the genes and their alleles within a population.
Allele Frequency: measure of how common an allele is within a population.
Genetic Variation in alleles/DNA sequences, both within/among populations [group of organisms of 1 species that interbreed/live in a place at same
variation time]. Greater genetic variation = more likely that there’ll be individuals with a survival advantage. Lack of genetic variation can limit survival
ability/adaptiveness. E.g., panther population declined significantly due to habitat loss/hunting. By the 1990s there were less than 30 panthers
left in the wild (low genetic diversity). To save panthers, 8 females were brought in, gene flow increased diversity.
Gene flow: passing on genetic material from one population to another (recombines DNA between populations). When new individuals move into a
population (immigration/alleles moving in), or individuals move out (emigration/alleles out), altering the gene pool. Animals usually have
greater migrative capability than plants, but pollen and seeds may be carried great distances by animals/wind. New alleles spread or old ones
are lost. More noticeable in smaller populations.
Genetic Diversity: total of all the genetic characteristics in the genetic makeup of a species.
Genetic drift random change in allele frequency BY CHANCE (no alleles are more favourable/successful). Result of the bottleneck effect: a natural disaster
(tornado)/significant random environmental selection (hunting) OR the founder effect: few individuals in a population becoming geographically
isolated from the original population reducing variation. Individuals may not be an accurate representation of the allele distribution and
genotype frequencies of the original population. Effect is greater in smaller populations.
Selective Pressure: natural selection (Darwin). Variations that are passed on because they make the individuals more likely to survive.
Sexual Selection: Certain individual are more attractive to mates/more likely to breed (these genes are more common in the gene pool).
Genetic all individuals have the same reproductive capacity/fitness (goes to fixation: a ‘fixed’ allele it is the only remaining allele in that population
stability having outcompeted all others). Any change that causes some individuals to produce more offspring, changing allele frequencies.
Biodiversity various kinds of life found in a place/difference between animals of the same species (genetic diversity: total alleles in gene pool).
HUNTINGTON’S DISEASE: in-curable disorder which affects the nervous system of humans caused by a dominant HD allele. Most prevalent
amongst people of European descent. Mutations/gene flow (Europeans transferring HD to other populations that they breed with) increase HD
Advantages (supporting increased prevalence of HD) Disadvantages (no significant increase in prevalence of HD)
HD is caused by a trinucleotide repeat (CAG) mutation on the Huntington Minimal effect of genetic drift. As HD is a late onset disorder, pre-symptomatic
gene. Alleles with greater than 40 are HD alleles. Mutations from a non-HD people have an increased fertility which increases the prevalence of HD allele.
allele to a HD allele is not rare (about 10%). Gene flow: European migration Other codons around the CAG repeat codon play a role in a person’s
appears to have carried HD allele wherever they settled/introduced the HD predisposition to HD. Gene flow: While increase in HD prevalence has been
allele into other populations by breeding (Australia, New Zealand, America). attributed to the European version of HD there has also been gene flow from
Prevalence of HD in these areas have increased. Japanese and African communities to other populations.
Biotechnology: useful manipulation of living organisms (or biological system) to develop a useful product/process/tool for human benefit.
 Reproductive technology: use of technology to assist/improve reproduction e.g., artificial insemination.
 Gene Technology: manipulation of DNA to create products for humans e.g., transgenic organisms, gene cloning, GMOs.

PAST: improve living conditions and survival, targeting needs for food, shelter, and clothing for thousands of years.
 Fermentation: (over 10,000 years). Yeast/microorganisms/enzymes used to produce wine, beer, vinegar and bread (started in
Egyptian times; fermenting bread in damp areas in the presence of yeast). Yogurt (4000 BC) was produced by lactic acid bacteria in
milk. Still used to produce enzymes used in environmental remediation/industrial processes.
 Selective Plant Breeding: selecting seeds from the most successful plants and producing a new crop with the most desirable traits.
 Medicine: use of plants to heal the sick e.g., willow bark containing salicin to treat inflammation. (Indigenous)

Potential benefits for society:

Industrial Bio fabrication: automated production of tissues/organs using materials e.g., cells, fibres, gels. Reduction of waste (chemical solvents/heavy
metals). Waste by-product less likely to require treatment. Pollution prevention: microorganisms/biofuels can absorb heavy metals from
contaminated sites aiding remediation of mine sites, reducing harm to environment. Less water used in production. May not be as efficient as
chemical processes. Developing new techniques is expensive.
Medical Extended life: create resistance to common death causes. Genetic testing, insulin, personalised medicine. RNA vaccines, CRISPR. More
(Improved efficient testing/treatment procedures. Reduced cost to the healthcare system. Could individualise treatments. Inaccessible due to cost.
health.) 1. MEDICINE: Gene modification used to produce therapeutic human proteins e.g., large, complex proteins (hormones/antibodies) are
made in mammalian cells. Antibiotics/vaccines are products of microorganism.
 2. Technology to manipulate DNA:
a. DNA splicing: cutting out genes using a restriction enzyme.
b. DNA amplification: copying genes, using polymerase chain reaction- DNA polymerase to replicate fragments.
c. Recombining DNA: ligase joins pieces of DNA together forming bonds in the sugar phosphate backbone.
Agricultura Golden Rice (vitamin beta carotene  more nutritional): addresses hunger in developing countries working to eradicate starvation. Created
l by inserting genes from a daffodil and bacterium into a rice genome.
Conservation: advances have enabled researchers to identify desirable traits, maximise hybrid vigour and genetic biodiversity via artificial
insemination e.g., a zoo used artificial insemination of animals at risk of extinction, creating 100 black footed ferrets to release into the wild.
Captive breeding technologies are essential in saving species (Sumatran rhino).
Greater yields produced = greater food supply/more profits. Can grow in substandard conditions.
Specific traits can be developed: e.g., Animals can be modified to produce more milk, grow more muscle tissue, or produce different coats.
Faster growth rate: maturity occurs quicker.
Reduced use of pesticides/chemicals: protects local watershed e.g., eutrophication.
 PLANTS: Reduced soil compaction because machinery is on the land for less time. Less tillage/soil degradation. Decrease in
labour/fuel use. Increase productivity of marginalised land. Killing weeds reduces food supply for animals  disrupts food chain.
Potential contamination of wild species. Development of resistance in target species. Possible decline in crop biodiversity.
 ANIMALS: Aquaculture e.g., AquAdvantage salmon. Faster growth rates. Increased revenue for farmers. Prevents overfishing of
natural fish which reduces genetic diversity. Produces better suited varieties. Research is time consuming/expensive. Difficult to
create because traits are often controlled by multiple genes. Potential side effects. Transgenic organism may escape into the wild
and introduce transgenes into the environment. Less gene flow.
FUTURE: look for new, faster, and more efficient ways to improve treatment of infectious diseases, cancer and genetic disorders.
1. PERSONALISED MEDICINE: Customization of healthcare tailored to individual patient where a patient’s genetic content, is used to
select medical treatments (tailored to body processes/maximising value of medicine). Pharmaceutical companies can create drugs
based on proteins associated with specific genes and disease to maximize therapeutic effects and decrease damage to nearby cells.
2. CRIPSR: genome editing technique. Cas-9 (enzyme) can be used to snip DNA at a particular location/nucleotide sequence in the
genome: can knock-out (inactivate a gene), knock-in (correct a mutation) or transgenic organism (insert gene). Possibilities:
uncovering genes that cause neurological disorders. Advantages: quick, easy, inexpensive to design for a gene of interest. Been used
to alter crops/been trialled in humans to cure genetic disease. (Expensive for people- 1/3 mill). Example: BCL11A knock out:
a. Human hematopoietic stem cells are collected  Cas-9 introduces a break to beta globin gene  RNA guides to target
DNA  Cas-9 performs a double strand break  BCL11A gene is knocked out of the beta-globin gene  Strand is then
ligated. These changes cause an increased expression of haemoglobin F and inhibits sickle haemoglobin.
3. GENE THERAPY: used for treating, or even curing, genetic and acquired diseases e.g., cancer/AIDS/Parkinsons disease/cystic fibrous
by delivering normal genes to supplement or replace defective genes or to bolster a normal function e.g., immunity.

Social/ethical (moral principles that govern behaviours/set of rules used in a societal group): Bioethics study of ethical, social, and legal issues
that arise in biomedicine/biomedical research, considers Medical/health benefits, financial/social justice issues, animal/human rights, privacy/
societal perception (respect), equity/justice (fairness) and effects on the environment. UN estimated there will be over 2 billion more people
to feed increasing the demand for food exponentially. Technologies can possibly alleviate hunger, reduce disease and boosting sustainability
by increasing amount/quality of food. Cloning Ethical issues: concerns for animal welfare, moral/legal concerns about cloning humans.
 Harm to the environment/organisms: by GMO’s is unknown. E.g., When Bt corn cross-pollinates with nearby milkweed plants it
become toxic to monarch butterfly caterpillars  disrupting the food web.
 Bioterrorism: Governments are worried terrorists will use biotechnology to create new Superbugs (global impact).
 Lab/production safety: Some technologies make commercial production lines before they have been sufficiently tested for safety.
 Human trials: sometimes trials may cause lethal harm to subjects e.g., during WW2 drug trials subject vulnerable volunteers to
harm.
 Affordability: most products/treatments cannot be afforded by the mass public.
 Breaches in ethics: creating ‘superhumans’, raises questions about human/animal rights.

RECOMBINANT DNA (genetic technology): for a gene to be cloned it must be inserted into a vector (plasmid); can mix DNA from 2 different
species and inserts DNA into a host genome at a random/exact location. Produces many copies of a gene or expresses a cloned gene. Can be
time consuming/expensive. Medical uses: can expand understanding of the role genes play in development of disease and test/develop new
treatments. Type 1 Diabetes (non-infectious autoimmune disease): person cannot produce insulin to regulate blood glucose levels.
1. Circular plasmid DNA in ecoli is cut by the restriction enzyme creating sticky ends: 1 strand is longer than the other- bases unpaired.
2. Insulin is taken out of chromosome 11 (cut with same restriction enzyme).
3. Heat stock is triggers a few bacteria to take up the plasmid (with human insulin) through transformation. Human gene joins to
plasmid via base pairing (annealing). DNA ligase joins DNA fragment (catalases the formation of the bonds). Recombinant plasmid
taken up by a bacterial cell and will have antibiotic resistance gene.
4. Bacteria are placed on an antibiotic plate. Only bacteria that have taken up the plasmid survive; each reproduces to make a colony.
5. A colony is grown in a culture medium to make identical bacteria. Insulin is purified.

TRANSGENIC SPECIES: one that has been created by moving a gene across species to create the desired trait. Transgenic Bt cotton: moth
caterpillars started developing genetic resistant to herbicides. Bt cotton plants include a gene taken from a bacterium that codes for
production of a protein that kills the caterpillar and has reduced pesticide use. Round Up Ready soybean: provision of nutritional food in is
essential to sustain food demands. GM plants are faster growing/nutritionally superior (better for human health). Were produced to be
resistant to glyphosate in Round-Up enabling farmers to spray for weeds without harming plants. Brazil: large areas of rainforest have been
cleared for soybean plantations (killing plant/animal species). Concerns about glyphosate effect on sensitive rainforest ecosystem. Glyphosate
is safe for human consumption in small amounts however has been found that the chemical remains are quite high. Weeds that are resistant
to glyphosate will require extra herbicides. Run off into neighbouring rainforests and aquatic environments could affect sensitive ecosystems.
1. Plasmid is removed from bacterium (with the gene that can break down glyphosate). DNA is cut by restriction enzyme.
2. Foreign DNA is cut by the same enzyme.
3. Foreign DNA is inserted into T-DNA of the plasmid creating a recombinant Ti plasmid. Plasmid is inserted into a bacterium.
4. Bacterium is used to insert the T-DNA carrying the foreign gene into the chromosome of a plant cell.
5. The plant cells are grown in culture (clone), all its cells carry the foreign gene and is a transgenic species.
Increased yields/crop production in marginalised locations. Improves availability of food. Provides effective/cost-efficient treatments. Reduced
use of pesticides  reducing soil/water pollution. Reduces weed competition with plants for water, light and nutrients. Risk of transgenic
plants cross-pollinating with wild varieties and creating unknown hybrid species potentially effecting the ecosystem balance. Interfering with
nature ‘playing God’ (naturalistic fallacy). Decrease genetic diversity (transgenic species outcompete originals). Unknown long-term impacts.

Changes in biodiversity (genetic/species/ecosystem): Alters evolution, increases genetic diversity in the short term (new gene combinations),
long-term decreasing if the desirable engineered organisms outcompete original (could risk extinction/unbalanced ecosystem). Wild varieties
might cross breed with engineered ones. Biotech can save animals from extinction, improve biodiversity in farming practices/alleviate hunger.

Transgenic animals: are created by injecting a vector (plasmid/virus) that contains the transgene into a fertilised egg. The cloned gene inserts
into one of the hosts chromosomes  egg develops until blastocyst stage and implanted into uterus of a surrogate some offspring express the
transgene when they are born. Sheep (Tracy) produced human protease inhibitor a1-antitrypsin in her milk (treat people with emphysema).
 AquAdvantage salmon (growth hormone gene from Chinook salmon with a gene promoter from ocean pout: increased growth rate).

Artificial insemination: collecting sperm cells from a male animal and depositing them into the productive tract of females. Best bull  false
mounting to arouse bull, collects sperm in artificial vagina by diverting penis to the vagina sperm is collected, frozen and transported
inserted into a cow via a ‘gun’ into the cervix. Advantageous traits/better genetics e.g., crossing Friesian bull (lots of milk) with a Jersey cow
(creamy milk). New combinations of alleles, increased production, increased chance of fertilisation, cost effective, reduces injury/STIs during
mating, access to genetics from across the world (cheaper to buy), reduce number of bulls required, to join a bull with more females than he
would be able to serve. Help people who can’t have children (ICI: insertion of sperm into cervix), increases population of endangered species.
 Could combine undesirable characteristics, can lead to abnormalities (massive udders in milk cows), may lead to reduction of genetic
diversity if the genes of the same parents are over-represented, requires specialised equipment (costly), time consuming.

Artificial pollination: intentional human transfer/brushing of pollen from the male (anther where pollen grains are produced) to female
(stigma, where pollen tube grows travelling down the style into the ovary- fertilising egg). Transferred to same plant (self-pollination), or
different (cross-pollination)). Used to select for desirable traits (fruit sweetness). Increases yields in face of decreasing natural pollinators.
 2012 study: bee pollination increased fruit size, seed set, germination rates and promoted production of bigger, sweeter fruits.
 Kiwis require large amounts of pollen to be a viable fruit (1000-4000 grains). To produce large fruit the producer needs to know
about pollination (when it occurs). Trials (costly, having to dedicate land to experiments) should be done to know number of days for
which stigma is able to receive pollen for max seed production. Need to know how many males (10-12%) needed. Robo-Bee: added
to pollen distributing vehicle. Sense which flowers are female and spray pollen onto them. Current methods: sprayed over vine
(expensive loss of pollen). Trials have found fruit is comparable in quality to commercial however the overall yield was low.
May produce offspring with increased number of desirable traits e.g., disease resistance/greater crop yields. Can increase genetic variety (new
alleles) by hybridising plants that wouldn’t come together naturally between different species offspring is not fertile. Can use drones to
pollinate. May combine the weaker features. May lead to long-term reduction of genetic diversity if certain genes are over-represented in
gene pool. Compared to insect pollinated usually have smaller fruit and decreased seed germination rates.

In-vitro fertilisation: eggs are removed from a woman’s ovary and combined with sperm outside the body (petri dish) to form embryos.
Prescribed estrogen to max egg numbers  Ovarian stimulation via hormone medication (follicle stimulating hormone/luteinising hormone
stimulate maturation of multiple eggs)  suction device is inserted which pulls eggs out (placed in incubator) sperm preparation  egg
fertilisation  embryo development  embryo transfer (via a catheter)  pregnancy. Used to save endangered animals from extinction. Used
for people who can’t conceive children. Sperm banks can result in an increase in desirable characteristics. Screening of embryos before
implantation can ensure only those without diseases are used. Genes for infertility which would not usually be passed on can be inherited.
Genetic diversity is decreased as only most desirable embryos are chosen, sperm banks allow individuals to choose their donor based on his
traits  increased frequency of certain donor genes, other important alleles could be lost.

Cloning: making a genetically identical copy of a gene, cell tissue or whole organism. Reduces the unknown element of selective breeding.

WHOLE ORGANISM CLONING: uses nuclear transfer technology to produce whole genetically identical organisms. Ensures desired phenotypes
are passed on. Potential to lead to replacement of dead/damaged tissues treating organ failure/diseases. Loss of genetic diversity– disease
could wipe out entire populations (only derived from 1 parent). Ethical issues relating to experimentation on embryos/manipulation of nature.
Somatic cell nuclear transfer: offspring are genetically identical to somatic cell nucleus donor (clones).
1. Somatic cells are collected from the animal that will be cloned and grown in a nutrient rich culture.
2. Unfertilised egg is collected from female donor and the nucleus containing the DNA is removed.
3. Nucleus from a somatic cell is injected into the enucleated ovum + stimulated with electricity to divide into an embryo. Embryo
develops into a blastocyst which is implanted into uterus of a surrogate mother.

Embryo splitting: creates an embryo using IVF. Mimics the rise of identical twins with 50% of DNA from each parent. Sperm and egg make an
embryo which is split into 2 at the 6-cell stage  creates blastocysts which implanted into the uterus of surrogate mother.
 Whole-animal cloning is very inefficient/expensive (clones often have developmental abnormalities or die soon after birth) e.g., Dolly (1996)
the sheep after 276 tries). The problem with using an adult cell is that genes for development have been switched off. Success rate is 1%.

Plants: used to converse rare species e.g., Wollemi pine. Have identical requirements to parent plant (management of crops = easy). Produce
quickly/cheaply on a large scale. Allows the farmer to grow high quality crops. Genetically identical  can be extinct by a disease.
 Plant cloning using a cutting: A cutting is taken from a mature plant  A lower leaves are removed  cutting grows into a clone.
 Plant cloning using explants: tissue sample is scraped from parent plant  The sample is placed on agar with nutrients/growth
hormones  tissue sample develop into plantlets in nutrient liquid  Each plantlet grow into a clone of original plant.

GENE CLONING: process of making identical copies of a segment of DNA that codes for a polypeptide from one organism and inserting it into
the genetic material of a vector. Very efficient process. Produces consistent results.
1. Gene is cut from organism using restriction enzymes and then pasted into a vector DNA/plasmid via ligation (ligase joins fragments).
2. Transformation: plasmid containing gene is introduced into a host cell  Host can now make copies of vector DNA via binary fission.

THERAPEUTIC CLONING: creation of a cloned embryo for the purpose of producing embryonic stem cells (can differentiate into almost any
body cell). Has potential medical applications e.g., repair/replacement of damaged tissue caused by injury or disease. Concerns about the
potential formation of tumours/ethical issues from destruction of embryos. Challenging to get them to differentiate into the desired cell types.
 Embryonic stem cells: nucleus from skin cell injected into the enucleated egg  When the embryo has developed to the blastocyst
stage, ES cells are harvested and grown in culture medium with special growth factors that cause them to differentiate into a desired
tissue.  Cells are used to repair diseased or damaged tissue e.g., muscle.
Society Biotechniques are dictated by needs of society, government choices, wealth of individuals and economic status of the country. E.g., DNA
fingerprinting in forensic science/paternity testing. Time consuming/costly, not available in under-developed countries.
Education level: can influence a person’s ability to make decisions about biotechnology risks/benefits (vaccination hesitancy)
Social media: is often opinion over evidence. Targeted advertising reinforces a person’s current belief system (conf. bias).
Geography: countries have different priorities based on their environment e.g., Australia supports skin cancer research.
Culture: Dependent on ideas/beliefs of people (religion/moral/education influences opinion). Religions: view fertilisation as the beginning of life, use of
embryos in biotechnology as destroying a life (life is a ‘gift from God’; Naturalistic fallacy: natural is good). Dominant religious beliefs may limit scientific
progress. Some religions prohibit consumption of certain animal products (cattle are sacred in Hinduism). Jehovah’s Witnesses refuse blood transfusion on
biblical teaching.
Economic A lot of research/development required. GMOs are often patented (biotechnology company owns rights to a particular technology), giving
multinational cooperations a monopoly. Small scale farmers in developing cannot afford to buy seeds for GMOs- unequal distribution of wealth.
GMOs can be produced in greater volumes for less cost, farmer receives greater financial returns, and consumer pays less. Personalised cancer
therapy: using antibodies costs $100,000-$200,000 per year for each patient (too expensive). Public health/prevention: governments invest in
screening/vaccination programs to reduce long-term high costs of treating patients e.g., National HPV vaccination program for cervical cancer.
INFECTIOUS DISEASES: CELL THEORY: All organisms are made of cells, all cells come from pre-existing cells.
Health state of complete physical, mental and social well-being.
Disease Any process/condition that disturbs the normal functioning of the organism.
Infectious disease caused by pathogens and can be transmitted from one person to another.
Pathogen agent that causes disease/illness in a host (microscopic- live/reproduce at expense of host causing
(uni/multi/ disease by releasing toxins, damaging tissue or competing for nutrients). When microbes are not in
non- cellular). balance, they can become pathogenic e.g., prions, viruses (hijack cell), bacteria (archaea), protozoa
Classified based (nucleus. No cell wall), fungi (filamentous/yeast) and microparasites (multicellular parasitic animals):
on size, cellular endoparasites/ectoparasites e.g., tick/flea.
nature.  Opportunistic pathogen: normally commensal but can cause disease when host's resistance is altered.
Infectious Caused by an organism/infectious agent that get into the body and cause problems (contagious). Likelihood = pathogenicity/host defence.
communicable disease: can be transmitted from plant-plant or animal-animal.
Virulence factors Allow pathogens to inhabit its host more effectively e.g., antibiotic bacteria resistance.
Size: (biggest  smallest): microparasites, fungi, protozoa, bacteria, viruses, prions
PATHOGENS DISEASE TRANSMISSION DESCRIPTION
Non cellular/non-living: not composed of cells, need a host to grow/reproduce. Can be seen with an electron microscope.
PRIONS: no genetic material. Modified/misfolded Creutzfeldt-Jakob disease Eating infected meat. Degrades protein responsible for breaking
proteins of 200-250 amino acids long causes Contaminated medical down incorrectly folded proteins. Brain
degenerative diseases of the nervous system. equipment. Organ transplant tissue is destroyed, individuals lose
Found in the brain/spinal cord. No cures. from infected individual neurological function.
VIRUSES: have genetic material. Unable to Influenza- influenza virus Inhaling respiratory droplets Causes fever, coughing, sore throat, runny
reproduce without host. Have protective protein (coughing, sneezing, talking). nose, contagious respiratory illness.
coat (capsid). Cell makes copies of itself. Uses host Tobacco mosaic virus Insect. Contact with infected Discolouration and mottled browning of
membrane to form their own lipids. disease caused by TMV. plant. leaves.
Cellular: composed of cells.
BACTERIA: (unicellular) with cell wall. Tuberculosis: Inhalation of shed bacteria. Primarily affects lung tissue. When active, highly
Prokaryotic. Reproduce asexually via binary fission. Produces harmful toxins/chemicals. Forms contagious and presents with persistent coughing
Have bacterial DNA/plasmids. Some have a endospores lying dormant for yrs. and leads to significant tissue damage. Growing
polysaccharide capsule protecting from host concerns with rise of antibiotic-resistant strains.
immune system. Good bacteria = lactic acid Fire blight Insect. Contact with infected Affects all parts of pome fruit (apples and
bacteria enhance lactose digestion. plant/contaminated tools. pears) plants, makes plant look burnt.
PROTOZOA: unicellular eukaryotic no chloroplasts Malaria caused by Bite from infected female High fever shaking chills and flu-like illness
or cell wall. Binary fission. Have flagella. plasmodium genus P. mosquito. caused by rupture of red blood cells.
falciparum.
 Phloem necrosis in coffee Insect vector feeds from Yellowing of leaves eventual root dieback
plants. infected plant and carries. and death of the plant.
FUNGI: uni/multi-cellular. Eukaryotic heterotrophic Tinea caused by Tinea Contact with infected skin Itchy white patches between toes, sore,
have a cell wall of chitin. Heterotrophic no pedis (athlete’s foot) scales/fungi in damp area. flaky.
chlorophyll. Moulds: composed of tubular Powdery mildew: Wind or water borne. Contact with white powdery appearance (large numbers
filaments (hyphae) forming to make mycelium. infected plant/ contaminated equipment. of spores).
MACRO ORGANISMS: Multicellular eukaryotic Ectoparasite: lyme disease. Contracted from bite of an infected paralysis tick, which secretes a
visible to naked eye. Endoparasites: live in hosts neurotoxin. Results in loss of muscle control, difficulty breathing, heavy salivation and unconsciousness.
body (flatworm). Ectoparasites: live outside the Endoparasite: taeniasis caused by a beef tapeworm: Contracted by: cattle (after ingesting tapeworm
body (flea). Cause disease directly or as vectors. larvae) OR humans (after ingesting undercooked meat with tapeworms)  Abdominal pain, loss of
appetite/weight loss. Tapeworm segments area in faeces. Rash and flu-like symptoms. Joint pain.
Mosaic virus diseases by Aphid (sap-sucking)/insect vector via feeding. Transfer virus between plants by
eating from an infected plant to a non-infected one. Causes irregular colouring/shaping of leaves.
Pandemic: a new disease/variant that has spread across a wide geographical area often worldwide.
Endemic: disease known to have a long-term presence in a specific region. E.g., malaria (cases mildly fluctuating).
Epidemic: outbreak of an infectious disease that spreads rapidly within a defined geographical area within a short period of time. Causes:
 Weather conditions: malaria increases in the tropical wet season because mosquitoes breed more successfully. Heavy rains are
linked to outbreaks of diseases transmitted via the faecal-oral route as they overflow the sewers contaminating water supplies.
 New pathogens appear: AIDS (1981) was transferred to humans from African monkeys. + Old pathogens reappear: influenza strains.
 Migration into new population: Europeans exploring introduced measles to native populations.

Zika virus epidemic (2016 Brazil): caused by the Zika virus transferred from monkeys to people. Symptoms: very mild- fever, rash and
headache or none. Transmission: infected mosquito OR mother to foetus (problematic as it can cause miscarriage/birth defects). 1952: first
human case, subsequently been detected in nearly 90 countries. Estimated 1-1.5 million infections occurred in Brazil. By mid-2017, cases of
disease dropped to 0 due seasonal weather patterns that impaired the mosquito vector, vigilant control measures and herd immunity.

Modes of transmission (needs a disease, mode and pathogen): involves carrying/transfer of a pathogen from an infected host  non-infected
organism. Mode relates to ability of pathogen to survive outside a host cell.
 Direct contact: physical contact (touching, sexual transmission: (blood, semen, vaginal fluids etc. e.g., HIV), kissing, direct contact,
prenatal/perinatal. E.g., herpes simplex virus) between host/non-infected organism. Horizontal transmission: between organisms
that are not parent and child. Ebola: by a virus which is endemic contracted by humans who contact an infected animal e.g., hunting.
 Indirect contact: transfer of pathogen to a new host via a non-living object (no physical contact) e.g., touching an infected surface,
contaminated food, or a vector. Infection occurs from a reservoir (e.g., the gut) created by the host outside itself (contaminated
materials and surfaces/objects). A fomite is any object or substance that carries infection. Airborne diseases (through respiratory
droplets: sneezes contain tiny droplets containing millions of virus particles E.g., flu, mumps, measles) are difficult to control.
o Faecal-oral route: Many pathogens infect or live in digestive system, and they shed infective cells, spores, or eggs in vast
numbers in the host faeces. Primitive sewerage systems can contaminate local water especially in tropical weather.
 Vector (NOTE: vehicle is non-living) transmission: transfer of the pathogen via another organism e.g., arthropod e.g., mosquitos,
sandflies, ticks (usually bloodsucking). Most common in warm, humid parts of the world: insect reproduction favourable (malaria).

Microbial testing of water: IV: source of water. DV: no. of colonies. CV: equal vols collected/same temperature/incubation time. Reliability:
repetition/averaging/consistency. Improve accuracy: better technology to count colonies. Method: collect water samples from different
sources. Use sterile techniuqes to add each water sample to a different agar plate. Close and seal. Repeat 5 times. Incubate at 30 0 for 1 week.

Koch’s postulates: criteria designed to establish a causal relationship between a pathogen/disease. Been generalized to other diseases. Koch
hypothesised each infectious disease is caused by a specific pathogen. Highlighted transmission of infectious disease occurs when an infected
individual passes on causative pathogen. Assessed sheep who died from ‘anthrax bacteria’. Isolated/injected into healthy- developed anthrax.
1. The microorganism must be found in abundance in all organisms suffering from the disease but not found in healthy organisms.
(Later discovered asymptomatic carriers of cholera). Might also be very low in number/not visible.
2. The microorganism must be isolated from a diseased organism and grown in pure culture (doesn’t apply to pathogens incapable of
growing in pure culture e.g., viruses). Vibrio cholerae was also isolated from healthy patients.
3. The cultured microorganism should cause disease when introduced (inoculated) into a healthy organism- same symptoms.
(Tuberculosis- not all organisms exposed to an infectious agent will acquire the infection)
4. Microorganism must be re-isolated from diseased experimental host and identified as identical to original causative agent.
Culture maintain (tissue cells, bacteria, etc.) in conditions suitable for growth.
Growth media Nutrient Broth. solution freed of microorganisms by sterilization containing the substances required for microorganism growth.
PASTEUR: performed his swan-neck flask experiments which disproved the theory of spontaneous generation (life originated spontaneously
from the non-living decaying and rotting matter) demonstrating microbes are airborne (microorganisms come from pre-existing micro-
organisms) and could therefore be transmitted from an infected to a non-infected individual. Proposed the germ theory: specific microbes are
the causative agents of infectious diseases. This assisted him in developing vaccines to chicken cholera, anthrax and rabies.
Hypothesis: life doesn’t spontaneously generate but is airborne. Pasteur began with two swan-neck flasks containing meat broth, both were
boiled to kill any microbes present. They were not sealed and therefore were exposed to air.
1. Control: the swan neck remained in tack  no bacteria present.
2. The swan neck was removed, and contents exposed to air bacteria is present trapped at the base of the swan neck.
Effects of diseases on agricultural: 20-40% of global crop production is lost annually to pests/diseases ($300 billion+). 20% of livestock lost6.
Reduced productivity, limits availability of food. Industrial scale farming produce higher yields of desired product at a cheaper cost however
close proximity increasing risk of disease transmission. Transportation of products globally increases risk of disease transmission/outbreaks.

Plant- Panama disease: caused by a fungal pathogen found in the soil. Majority of bananas grown are propagated asexually (chosen for their
sweetness/size)- genetically identical placing crops at risk of disease outbreaks. 1950s: dominate crop (Gros Michel cultivar) was infected.
Fungus enters plants vascular tissue blocking xylem, preventing water/nutrient transport causing the plant to wilt and die.
 Late 1950s: Cavendish was found to be resistant to Panama disease and produced higher yields (constitutes 50% of total world
banana production. 99% of the worlds export market). Estimated 50 billion tonnes of Cavendish bananas are produced globally per
year. Export value: 10 billion+. Australia: 450 million+.
 1989: a new strain Tropical Race 4 was discovered in Taiwan which has spread globally in all major banana-growing countries. It is
anticipated that the world’s banana crops will be decimated in the next decade if new alternatives are not developed.

Animal- Newcastle disease: highly contagious disease of birds (concerning to poultry industry- because there is high morbidity- significant
impact on poultry meat and egg productivity/income revenue) caused by Newcastle disease virus (NDV).
 Symptoms: lesions on gizzards/duodenum, nasal discharge, green diarrhoea, neurological impairment.
 Transmission: birds (problematic in battery cage farming), through droppings/secretions form infected birds.
 Prevention: NDV-free countries e.g., Australia, place restrictions on the importation of animal products from regions where the
disease is endemic. When outbreaks occur, all chickens are killed.
 Economic impact: Australian chicken egg: $825 million AND meat: $2.5 billion per annum respectively. Countries import from NDV-
free countries only. 2002-2003 outbreak in USA required the culling of over 3 million birds at an estimated cost of $230 million.

Fungi- Dry Bubble disease: fungal disease of commercially grown white-button mushroom. Symptoms: late infections causing brown lesions.
Early infections: deformed masses of undifferentiated mushroom tissue. Highly contagious. Spores spread easily through water and air. Grown
asexually  low genetic variation (highly susceptible to outbreaks) BUT produces crops of great quality/quantity.
 Australia produces over 70000 tonnes of mushrooms per annum ($450 million), while global market is valued over $65 billion.
Currently, dry bubble disease is estimated to cost industry 5% of total annual revenue. Plastic bottles filled with salt kill the disease.

Adaptations of pathogens to facilitate entry/transmission:

Plasmodium Falciparum (malaria- protozoan): unable to survive outside host.
1. A female mosquito takes a blood meal via proboscis inoculating human with sporozoite (motile spore-like stage).
2. Sporozoites migrate to liver via capillaries and infect hepatocytes (liver cell). Sporozoites reproduce asexually by multiple fission to
produce merozoites (host cells rupture and merozoites (daughter pathogens) break out of the liver and re-enter the blood, where
they invade RBCs (causing them to rupture), grow and divide destroying the blood cells in the process).
3. Merozoites repeat the cycle (symptoms: fever, chills, sweats and anaemia). OR merozoites enter trophozoite phase differentiating
into either male (microgametocytes)/female gametocytes (macrogametocytes).
4. Gametocytes ingested by another female mosquito. Mature in digestive tract forming either a male gamete (microgamete) or female
gamete (macrogamete)  Gametes fuse to form a mobile diploid zygote (ookinete)  migrates through the midgut wall and
develops into an oocyst (thick-walled spore containing zygote).

Entry adaptation: To obtain a meal, mosquito releases an anticoagulant protein- prevents blood from clotting and P. Falciparum exits.

Adaptations to facilitate transmission between hosts:

1. At each stage of pathogen’s life has different antigens, preventing hosts from initiating an effective immune response.
2. Once RBC, P. Falciparum produces adhesion proteins on the surface of the cell which slow RBC movement through blood vessels,
aiding the merozoites in exiting the cell.

Influenza: Only influenza A has caused global pandemics. Symptoms can include fever, chills, headache, coughing and sneezing. Categorises
based on variations in two surface proteins: haemagglutinin (H) and neuraminidase (N).

Adaptation of influenza to facilitate entry into host: H/N surface proteins have evolved to bind to specific receptor proteins on target
epithelial cells that line upper/lower respiratory tract. Virus quickly binds to host cells, where it is endocytosed before hijacking cell’s genetic
machinery to replicate  it leaves cell surrounding itself with lipids/glycans from host cell  remains hidden from immune systems.

Adaptations to facilitate transmission between hosts:

1. Antigenic drift: high mutation rate; changes in the H and N surface proteins (antigens) meaning the hosts immune system will not
recognise if it has been encountered previously.  necessary to develop annual vaccines.
2. Antigenic shift: different strains infect an individual at same time/swap gene segments- reassortment). Lack of recognition by
immune system results in rapid virus transmission major influenza pandemics e.g., 2009 swine flu pandemic.
3. Symptoms of coughing/sneezing: highly effective at transmitting virus (can remain viable for up to 2 days outside hosts).

Australian plant to a pathogen: 90% of plant diseases are caused by fungal pathogens which penetrate plant tissues via openings
(stomata/lenticels) OR root system. All plants have physical barriers (structures that protect against entry)/chemical barriers (that oppose
microbe colonisation) that protect/slow pathogens.
Phytophthora dieback: soil-borne fungal pathogen that affects a wide range of Australian plant species. (Spores contact root  produce germ
tubes which releases enzymes that breach the roots barriers  germ tube continues to differentiate by mitosis to produce mycelium 
intercellular hyphae spread throughout the plant/vascular tissue, blocking transport of water/nutrients, intracellular hyphae penetrate plants
 tissue/absorbs nutrient root/crown rot and death) 1940s-1970s: a significant outbreak of P. cinnamomi caused the dieback of Eucalyptus
marginata over 300,000 acres in WA. Defence: cellulose/lignin in cell wall make the cell difficult to penetrate AND secretes a range of
antimicrobial chemicals e.g., all eucalyptus produces an oil (inhibits spread through plant tissues) which is stored in sub-dermal secretory
glands prevent entry.
 Gene for gene resistance: plants have resistance genes (R genes: offers broad-spectrum protection and is highly conserved) that
code for R proteins, which can bind directly with a specific avirulence (AVR) protein that is coded for by an AVR gene (required for
entry of a pathogen into a host cell). R protein binds with AVR protein. R-AVR complex prevents pathogens from infecting new cells.
 Basal resistance: trigged by the recognition of pathogen-associated molecular patterns (PAMPs) which are highly conserved
molecules common to various pathogens and damage-associated molecular patterns (DAMPs) from infected cells BY host pattern
recognition receptors (PRRs) causes fortification of plant tissues  Cell junctions/stomata are closed restricting access.
 Hypersensitive response (if basal fails). Activated to restrict/stop pathogens from spreading. Plant cells use chemical signalling to
communicate the presence of a pathogen via protoplasmic strands. The nucleus moves to the site of pathogen contact.  nucleus
begins to disintegrate.  resin-like granules form in the cytoplasm + spread throughout cell/fungus die (apoptosis).
 Systemic acquired resistance (SAR): non-specific, whole plant response that occurs once the HR has been triggered. Plant tissues
become highly resistant to a wide range of pathogens for an extended period. Pathogen binds to plasma membrane and induces a
signalling pathway (SP).  causes a hypersensitive response. Before the cells die, they release salicylic acid. which is transported
throughout the plant  leads to production of antimicrobial molecules (prep the plant for any pathogens).

Innate immune system (1st line of defence): range of non-specific physical and chemical barriers/mechanisms that work together to prevent
entry of microbes into the body that the organism was born with. Response is not improved with pathogen re-exposure.
PHYSICAL BARRIERS Description and location
Skin: difficult Upper epidermis contains keratin a protein that helps bind the skin’s cellular matrix making it impenetrable to microbes. Middle
environment for a dermis: contains hair follicles, sweat and sebaceous glands (produce sebum, which seals the hair follicle preventing access by
pathogen to grow on. pathogens). Hypodermis: bottom fatty layer of the skin and contains blood and lymph vessels (deliver cells involved in innate immune
(no/little water) response if skin is breached).
Cilia Hair-like fibres off the epithelial cells which work with mucous membranes to trap microbes and sweep them out and away from the
body. Microbes are removed via coughing or sneezing OR destroyed encountering stomach acid after being swallowed.
Mucous membranes Line the respiratory, urinary, and digestive tracts. Specialised goblet cells secrete mucus, sticky which lubricates membrane/traps any
microbes that enter the body. Microbes are then removed via sneezing, coughing, defecation, or urination. (Muco-ciliary transport).
Peristaltic waves of digestive tract mix microbes with stomach acid and mucous membranes. Prevent microbial colonies from settling/infecting.
Urine flow (flushing) passed under pressure during urination removing microbes in urinary tract. Openings are also slightly acidic (6)- kills many microbes.
Microflora natural bacteria which have a symbiotic relationship with humans, acting as competitors for potential pathogens, outcompeting them
or creating chemical conditions that pathogens cannot tolerate. Pathogens become opportunistic when microflora is disturbed.
Reflex action Coughing/sneezing reflexes move dust, mucus, and trapped pathogens out of the breathing passageways. Vomiting removes
pathogens which have been swallowed.
CHEMICAL BARRIERS Description and location
Acidic/alkaline Specialised stomach epithelial cells (parietal cells) produce hydrochloric acid (pH 1-2) which kills any microbes that enter via food or
secretions water. Bile made in the liver is secreted into the duodenum (pH 7/8.5) where it neutralises acid entering from the stomach and
creates alkaline conditions. pH change kills microbes.
Sebum/sweat See skin. Sebum is acidic pH (4-6). Sweat is slightly acid pH (6.5) which hinders bacterial growth + contains a protein, dermcidin which
binds to bacteria and disrupts their function.
Cerumen (earwax) is high in fatty acids which lowers the pH to 4 killing most microbes.
Lysozymes an enzyme which is highly conserved. Degrades cell wall of bacteria by degrading peptidoglycan. Causes bacteria to swell/burst due to
osmosis- lyse. In salvia, tears, sebum and sweat.
Innate cellular responses: leukocytes (white blood cells that are involved in both innate/adaptive immune responses work to fight infections)
are either granulocytes which contain enzyme filled granules that damage/digest pathogens after phagocytosis OR Monocytes: are phagocytic
(engulf foreign bodies). (Note: RBC (erythrocytes) carry oxygen).
Category Leukocyte + Role
Monocyte Macrophage: Acts primarily as phagocytes. Fixed macrophages: in tissues- detects pathogens (skin, lungs, intestine). Mobile macrophages:
circulate in bloodstream/lymph system & are attracted to an infected site by the chemoattractant molecules from mast cells.
Dendritic cell: Phagocytic antigen presenting cells that express MHC 1/2 molecules on their surface. Circulate in blood where they capture/
phagocytose pathogens or are attracted to an infection upon detecting chemo attractants.
Granulocyt Mast cell: simulate vasodilation/vessel permeability through release of histamine which leads to increased migration of macrophages and
e neutrophils into infected area. Release chemo attractants which activate other immune cells and increase migration to infected site.
Neutrophil: Phagocytic cells (50-60%). Defend against smaller pathogens e.g., bacteria, viruses, and fungi. Death of neutrophils = pus.
Eosinophil: Defend against parasitic infections that are too large to be phagocytosed directly. Attach in a group to parasite/release digestive
enzymes from their granules to destroy pathogen.
Basophil: Can phagocytose. Releases histamine (causes vasodilation/subsequent inflammation) and Heparin (prevents clotting from occurring
too quickly which would otherwise inhibit immune response).
Granulocyte Natural killer cell (innate immune response): Specialised white blood cell that can recognise body cells from viruses. Do not require prior
Lymphocyte activation. Patrol the body and can distinguish pathogens via the MHC 1 receptor pathway. NK cells can also recognise some tumour cells.
Receptors on NK bond to MHC1 on healthy cells, antigen not present  release cell. Pathogen present  NK cell binds Initiates release of
cytotoxic chemicals (digestive enzymes from NK) causes membrane to degrade/apoptosis.
Innate immune system: if a microbe breaches barriers of the body, antigen molecules on the surface of the pathogen are recognised by the
host as ‘non-self’ (have pathogen associated molecular patterns- PAMPS and lacks self-proteins associated with the host) which initiates the
innate immunes response (inflammation/phagocytosis). The response secretes many different proteins that aid defence. Some directly attack
 antigens while others trigger further immune responses e.g., lysozymes, proteins in the complement system can cause the cells of invading
microbes to burst/lysis, cells that have been infected release interferon which act on neighbouring cells hindering viral replication.

Inflammation response: occurs at the site of an infection/injury. Mast cells are activated when their pattern recognition receptors (PRRs)
detect presence of pathogen-associated molecular patterns (PAMPs) on pathogen’s surface  causes degranulation of the mast cells and
release of proteases (break down cell membrane proteins of pathogens), prostaglandins and histamine (causes dilation/increases permeability
of blood capillaries around injury allowing more blood/fluids to flow in bringing more clotting factors and phagocyte cells (causing swelling/
putting pressure causing drainage of fluid into the lymph system- washing dead cell debris towards lymph nodes), it also brings heat to the site
which can inhibit some pathogens and speeds up all chemical reactions for faster repairs). Mast cells/fixed macrophages release cytokines-
coordinates inflammation response (interleukins: act as messenger molecules between immune cells/interferons: released by infected cells,
triggering surrounding cells to become more resistant to invading pathogen/signals phagocytes to destroy infected cells- pain/ fever).

Phagocytosis: phagocytes (neutrophils/macrophages/dendritic cells/eosinophils- can squeeze out of the bloodstream to move amongst cells)
engulf pathogens (when they detect antigens of a foreign cell) via endocytosis and leaves them sitting inside a vessel/vacuole which merges
with a lysosome (has acid hydrolase enzymes that digest cell contents, cutting the pathogen into tiny pieces and then releasing them via
exocytosis). Opsonization uses opsonin’s to tag foreign pathogens for elimination by phagocytes.

Complement system: (enhances ability of antibodies/phagocytic cells to clear microbes/damaged cells) a group of up to 30-50 cleavable
proteins (circulating through the blood) that become activated when they encounter the antigens on a pathogen. Activation triggers a cascade
(proteins cleaving other proteins) that coat a pathogen in complement proteins which enhances the binding of antibodies to the pathogen and
phagocytosis. Some proteins act directly on the cell membrane of pathogen causing cells to lyse.

Lymphatic system: network of delicate tubes throughout the body which drains fluid/lymph that has leaked from blood vessels (plasma seeps
out of the capillaries to bath the cells keeping them moist for gas exchange) into tissues and empties it back into the blood via lymph nodes.
Lymph tubes: one-way drainage system from all body extremities to a point near the heart where tissue fluid (squeezed through by muscles
and tubes have valves to prevent back flow) then rejoins the blood. At points along lymph vessels there are lymph nodes (small lumps of tissue
containing white blood cells which fight infection, and filters lymph fluid) which traps fluids. If a pathogen attempts to move through the lymph
fluid, phagocytes in the lymph nodes prevent it. When fighting infections lymph nodes become swollen and painful.
Antibodies: IgM, Blood/quaternary proteins produced by plasma B cells in response to encountering a specific antigen (critical role in immune system).
IgA, IgD, IgG, IgE Specific antibodies bind to specific antigens. Consists of 4 polypeptides: 2 heavy and 2 light chains joined to form a Y shaped molecule.
(immunoglobulins Ends of heavy and light chains form variable regions that are unique to each antibody and act as the antigen-binding site.
)
Antigen Foreign substance usually peptides/proteins recognised by the body/host as non-self and trigger production of antibodies.
Apoptosis when cells are so thoroughly infected, the area is sealed off and body cells are given a chemical instruction to ‘commit suicide’. Special
(programmed cell antigens appear on cell membrane which attract phagocytes to destroy the cell/pathogen. Sometimes an affected site will be walled
death) off by a layer of cells forming a capsule/cyst that isolates the infection.
Antigen Mediates cellular immune response presenting antigens on their surface for recognition by lymphocytes aiding binding e.g., T cells. In
presenting cells a dendritic cell: (1) engulf bacteria surrounded by a vesicle. (2) vesicle fuses with lysosomes which digest bacteria. (3) antigens from
bacteria are presented on antigen-presenting cells surface with the MHC2 marker.
B cells (activate white blood cells that make antibodies, in circulation in blood. Have own receptor bound antigens. Produce in/mature in bone marrow.
humoral  Plasma cells: secretes immunoglobulin/antibodies.
immunity)  Memory B-cells: long-lived, quiescent cells that are poised to quickly respond to antigens  quick response to reexposure
Humoral immunity Involves B cells/antibodies, compliment proteins and antimicrobial peptides which deals with antigens from pathogens. There are
(antibody millions of variants of B cells, which have different antibodies. If a specific B cell has the right antibodies on its surface to bind an
mediated antigen, then the B cell becomes activated. It will then proliferate/replicate by making many copies of itself. Some copies form plasma
immunity) B cells which mass produced the same antibody while others differentiate and become memory B cells.
Cellular immunity (No antibodies) is activation of phagocytes, antigen-specific cytotoxic T-lymphocytes, and various cytokines in response to an antigen.
T-cells (produced kill/attack infected body cells (intracellular e.g., viruses). All have a TCR-CD3 receptor complex + bind to MHC 1 or 2 molecules on
in bone marrow, APCs.
mature in thymus)  Helper t-cells: sense an infection/activate other immune cells (e.g., cytotoxic T cells) to fight.
 Cytotoxic t-cells: immune cells that can kill certain cells (foreign, some cancer and cells infected with a virus)
 Memory T cells: trained to recognise specific antigens triggering a faster/stronger immune response.
 Suppresser T cells: reduce activity of other T cells when necessary.
Lymphocytes white blood cells (T/B/NK cells) uniform in appearance but varied in function.
Opsonization Immune response which uses opsonin’s to tag foreign pathogens for elimination by phagocytes. Complement components coat
dangerous antigens to be recognised by antibodies or complement receptors on phagocytes.
Cytokines Intercellular chemical messengers that initiate and constrain inflammatory responses to pathogens. Example: Interferon gamma:
functions as primary activator of macrophages, stimulates NK cells and neutrophils.
Adaptive/acquired immunity (improved with re-exposure): immune responses that are developed (learned) and remembered against a
specific pathogen (highly effective to specific antigens). Lymphocytic cells (B and T cells) are able to identify specific pathogens by their
antigens and adapt defences to accurately target them (current/future). Adaptative immunity is split into natural/artificial.

Activating adaptive immune system: all nucleated cells in the body express proteins on their surface (major histocompatibility complexes class
1- MHC1- which allows cells to identify ‘self’ from ‘non-self’). If a ‘self’ cell has been infected by a pathogen, it presents the foreign antigen on
its surface via MHC 1. When an immune cell binds with MHC 1 molecule, the foreign antigen is recognised causing an immune response.
 Antigen presenting cells (macrophages, dendritic cells, and B cells), express MHC 2 molecules. After phagocytosis a pathogen is digested, and a
portion of the pathogen is expressed on the surface via MHC 2. APC then migrates to the lymph system where it presents the specific antigen
to helper T (Th) cells via MHC2 or to cytotoxic T (TC) cells via MHC 1  activates adaptive immune system.  Th/Tc cells mature/proliferate.

Th cells activate antibody-mediated immunity response, binding (via their T cell receptors) to the MHC 2 molecule of naïve B cells (each
contain a unique B cell receptor capable to recognising a specific antigen- presented via MHC2) that are expressing the same specific antigen
that activated the Th cells  activate B cells to differentiate into memory B cells or plasma cells (antibody factories)  Circulating antibodies
bind directly with antigens to form an antibody-antigen complex (Neutralization: prevents pathogens from entering/damaging host.
Agglutination: causes antigens to clump together, where they are phagocytosed. Opsonisation: antibodies bind to infected host cells and are
detected by innate phagocytes or NK cells which release cytotoxic chemicals to lyse the host cell to kill the pathogen inside. Complement
activity: protein cascade causes cell lysis) preventing them from causing further infection/making them easier to recognise/be destroyed by
phagocytes. Memory B/T cells provide ongoing immunity.

Cell-mediated immunity: required to target pathogens that have already infected host cells. Antibodies are unable to bind antigens within a
cell. Regulated by T cells recognise antigens when presented on the surface of an APC (via MHC2 molecules) or an infected cell (via MHC1
molecules). All T cells express a TCR-CD3 receptor complex which is required to bind to MHC 1/MHC 2. CD3 receptor is highly conserved while
the TCR is highly variable to account for different antigens. Response is activated: when an APC presents a specific antigen via an MHC 2
molecule to a complementary Th cell. The Th cells then release cytokines to activate mass cloning of Tc/Tm cells with receptors specific to the
antigen. Activated Tc cells exit the lymph system and migrate to site of infection, where they bind via their specific receptor to infected cells
presenting the antigen via MHC1 receptors. The Tc cells degranulate releasing cytotoxins including perforin, which lyse the cell, killing any
pathogen within it. NOTE: Tc unlike NK cells require activation. Once an infection has been defeated, regulatory T (Treg) cells are produced
which release cytokines that prevent further production of Tc/B cells. Most circulating immune cells linked to the defeated pathogen die off,
except memory T/B cells (remain circulating/accumulate in the spleen/lymph system, where they will proliferate for antigen re-exposure).

Primary response: time taken to fight the infection is quite long (T/B cells have to be activated and proliferate. Cytotoxic T cells need to kill the
infected cells and B cells need to produce plasma cells that then secrete antibodies and bind with the antigen to neutralise it). Memory T/B
specific to antigen remain in the body. If re-exposed to same antigen the secondary response, is much quicker. After identification of the
antigen, the memory cells will activate production of Tc cells and the B cells  forms many plasma cells, which secrete a much larger number
of antibodies than in primary (destroys invading antigens before symptoms).

Limiting transmission of COVID: Knowing cause/transmission methods of infectious diseases allows health authorities to integrate appropriate
preventative/control measures to minimise spread/reduce contact between infected/non-infected individuals. COVID-19 (caused by virus:
SARS-CoV-2): 2020: WHO identified a virus that caused pneuma-like symptoms in fewer than 100 individuals in Wuhan, China. Soon after
infections/deaths grew exponentially. Chinese authorities placed Wuhan and surrounding regions into strict lockdown, quarantining 20 million
people. Late January: virus had been detected in Europe, Asia, and the USA, meeting the 3 criteria to be categorised as a pandemic: illness
resulting in death, sustained person-to-person spread, worldwide spread. In under two years global infections reached 350 million.
Local (most Forced 2-week quarantine for individuals returning from overseas, fines for breaches. Forced lockdowns, mandatory mask wearing in public
specific) spaces, night-time curfews, and travel bubbles where enforceable. ‘Pop-up’ testing/tracking facilities. Mandatory vaccination required for
certain professions. Proof of vaccination required to enter businesses/public facilities. Measures were monitored/enforced.
Regional ‘Hard’ state border lockdowns to restrict movements. Extended lockdowns with heavy restrictions on the liberties/movement. Government
approval required to travel into regional areas. National Cabinet formed to address specific health/economic needs of each state. Staged
approach to the vaccination rollout (elderly/vulnerable prioritised). Financial incentives provided to support people forced into
unemployment. ‘No jab, no play’/‘No jab, no pay’ legislation.
Global WHO: responsible for global governance of health/disease. Directly communicates with policymakers at the national/regional levels to
inform them of trending disease patterns. Recommends/supports strategies to limit disease spread. E.g., Mathematical modelling to track/
predict spread of virus variants (allowed regions to be proactive). Coordinated approach involving thousands of scientists to produce and
distribute vaccines (within 18 months multiple companies had produced vaccines). Planning/building of emergency operations centres,
training of health workers, financing of vaccination programs.
Hygiene (conditions/practices that assist in maintaining health/prevent disease spread) practices: either kill microbes or reduce likelihood of
transmission. Prior they didn’t have hygiene practices e.g., doctors wore the same pus-smeared gowns.
Personal Practices individuals can do to maintain good health and e.g., handwashing after defecating/before eating/handling food, bathing,
minimise risk of becoming infected/infecting others. correct respiratory hygiene when coughing/sneezing, sexual protection.
Domestic Practices done at the household level to minimise disease e.g., keeping raw/cooked foods separate, cooking food for appropriate time/
spread/focusing on food storage and preparation. temperature, storing food correctly, clean water for cooking.
Communit Large-scale infrastructure programs focusing on providing e.g., water treatment/purification, sewerage removal and treatment,
y society with access to clean water/food/sanitary conditions. maintenance of hygiene in markets.
Quarantine: period of strict isolation to prevent introduction/spread of diseases or unwanted animals, plants, and pests into the country or
across borders. Prevents infected individuals from encountering non-infected individuals. Quarantine period: for a period in which a pathogen
is communicable. Australia remains free of many significant human/agricultural diseases, because of natural water barriers, and strict
international/interstate quarantine regimes. Biosecurity strategies: border inspections, enforced destruction of diseased animals/plants and
banning importation of MOST organic products. All practices protect Australia from serious
communicable diseases and economic loss. Australia is free from foot and mouth disease (which
could devastate sheep/cattle herds), malaria and sorghum downy mildew (fungal pathogen with
potential to destroy cereal crops/native grasses).

Vaccination (process of making people/animals resistant to diseases caused by specific

pathogens):
Active immunity: occurs when activated B cells differentiate into plasma cells and antibodies are produced. Naturally: individual is exposed to
a pathogen (becoming ill/recovering- danger is the person might not survive) or Artificially: through Vaccines: exposed to a compromised
version of a pathogen (primary immune response without symptoms) which activates adaptive immune system  production of
antibodies/memory B/T cells specific to the antigen (Long-term protection from the disease). If a secondary exposure occurs immune response
is faster/stronger due to memory B/T cells generated from primary exposure. Common active vaccines contain:
 a live attenuated/weakened version of the pathogen (e.g., measles/chickenpox vaccines)
 dead version of the pathogen (e.g., hepatitis A virus vaccines) + viral mRNA (e.g., some COVID-19 vaccines)

Passive immunity: individual receiving antibodies not produced by their own immune system. Provides an immediate protection against a
disease. No memory B or T cells are produced  protection is short-lived (circulating antibodies soon drop) and booster shots are needed for
extra protection. Natural: from mother  foetus via placenta or from mother to newborn during breastfeeding (temporary). Artificial:
vaccination- antibodies are injected directly into an individual (certain diphtheria vaccines contain blood fractions containing antibodies).

Herd immunity: some individual cannot be vaccinated because of age/health reasons. When a significant majority of individuals are vaccinated
(around 90%) unvaccinated individuals are also protected (fewer hosts available).

Public health campaigns (use media to disseminate information): seek to provide community members with information to have them engage
in behaviours that improve their health/prevent disease spread. Public health campaign (1980s): raised awareness about HIV-AIDS. TV
commercials in which the Grim Reaper killed people with a bowling ball. Graphic and highly effective and in conjunction with many other
initiatives resulted in the incidence of new cases falling in subsequent decades. COVID-19: spread across all forms of media including daily
updates of new infections/deaths, experts highlighting importance of vaccination and television advertisements showing people who had
contracted the disease, to promote vaccination. Contributed 90% of eligible Australians receiving double vaccinations.

Use of pesticides: prevent the spread of infectious animals/plant disease. Chemicals target pathogens/insect vectors that carry pathogens.
While there is still widespread dependence on pesticides, there is also growing awareness of the impact they can have on people’s health and
the environment. Genetic resistance is also developing  pesticides need to continually be developed/alternated.

Genetic engineering: intentional modification of an organism’s genome to alter its phenotype. Valuable because of the growing resistance of
pathogens/insects to traditional chemical treatments. Cotton Bollworm (eats cotton plants) have evolved resistance to pesticides. Scientists
have transferred a soil bacterium into a plant’s genome producing a toxin, lethal to the caterpillar if eaten. CRISPR-Cas-9: used to genetically
sterilise male mosquitoes (vectors for malaria). When the males mate, this causes females to become infertile.

Antivirals (aim to prevent non-living viral particles entering/ developing in the host cells): viruses consists of nucleic acid (DNA/RNA) encased in
a protein coat (capsid). Some are also enclosed in a second protective layer- envelope (consists of lipids derived from the host cell’s membrane
and viral proteins that play a role in infecting new cells). DNA viruses cause hepatitis B and herpes. RNA viruses cause HIV and COVID. Viruses
require a host cell to reproduce, thus there are significant challenges to developing antiviral drugs. Any attempt to target the virus inevitably
causes death or damage to the host cells (off target negative effects: inhibiting production of hosts polypeptides), never producing a cure
rather suppress rate of viral replication by:
 Inactivation of the capsid/envelop proteins, which inhibits viral attachment to host cell.
 Inhabitation of transcription/translation during viral protein synthesis.
 Inhibition of new viruses being released from host cells.
This results in rapid development of drug resistance. Antiviral medications are effective at reducing symptoms and sometimes extending the
life of infected individuals, as well as reducing risk of transmission. However, the specificity of antiviral drugs and the high mutation rate of
viruses (RNA viruses- up to 1 million times higher than that of the host) make most drug development options economically non-viable.

Antibiotics: substances produced by microorganisms/chemicals which are specific for bacteria which kill/inhibit cells microbes but do not harm
human cells. Helps to control diseases. Are either bactericidal (kill bacteria by interfering with formation of cell membrane/wall or cell contents
e.g., penicillin inhibits enzymes keeping the cell wall together causing the cell to burst- don’t kill body cells as they lack a cell wall) or
bacteriostatic (inhibit bacterial growth by interfering with DNA replication and protein synthesis. Do not kill the bacteria and rely on immune
system to clear the infection e.g., amoxicillin). Both groups are broad-spectrum (effective against a wide range of bacterial species- can be
used without identifying causative pathogen) and narrow-spectrum (highly specific and acts only on a very small number of bacterial species).
Antibiotics target cell structures and molecules not found in humans e.g., the cell wall. They do not affect host cells. Have very few side effects.
Overuse/misuse of antibiotics has led to antibiotic resistance bacteria who have gained resistance via spontaneous mutation- vertical evolution
and exchanging genes- horizontal evolution). E.g., drug-resistant forms staph infections.
 Disadvantages: Bacterial antibiotic resistance is increasing. Resistance in less dangerous strains can be transferred to more
aggressive types, previously used antibiotics are no longer effective against some strains (e.g. gonorrhoea), Infections that have been
able to be controlled now pose a threat, Pressure on drug companies to research/develop new drugs - expensive/time consuming.

SARS-COV-2- spread of COVID in Australia was initially prevented through a range of environmental management/quarantine methods-
(‘pop-up’ testing facilities to test, track and isolate infected individuals, forced lockdowns, mandatory mask wearing in public spaces (reduced
spread by up to 80%), and social distancing (combined with mask wearing increases up to 90%) became central to slowing the spread of the
virus until the vaccine rollout- 2021), however flaws in biosecurity lead to significant COVID-19 outbreaks in NSW/Victoria. Highly effective-
drop to near zero new cases in Victoria after lockdowns 1 and 2. Of the nearly 2000 COVID deaths in Australia between 2019-2021 majority
were unvaccinated and the 11.7% who had been double vaccinated all had significant health issues. While individuals can still contract COVID
after being vaccinated the risk of becoming seriously ill is reduced significantly with only 1.9% of intensive care unit patients being double
vaccinated. There was a drop in incidence/mortality in March/August 2020 resulted of forced lookdowns/restrictions limiting mobility.
  Impacts: Australia: $311bn was used to fight covid, mental health impacts, concerns about civil liberties (do forced lockdowns/
mandatory vaccinations infringe on rights?) versus greater good and burden that unvaccinated individuals place on health care
(hospitalisation). This may prevent vaccinated individual from receiving medical treatment for other often serious health conditions.
 Mobility: Prior to vaccines, incidence/mortality reduction was attributed to force lockdowns that limited mobility. Vaccination rollout
commenced in Feb 2021 (90% were vaccinated). This came with a significant easing of the restrictions (limited mobility) which
increased the incidence of COVID-19 cases. Limiting mobility reduces spread of the disease. Vaccinations reduce number of deaths.

Strategies to predict/control disease spread: Prior to germ theory, predicting/controlling disease spread was dependent on observed
correlations between specific conditions and disease outbreaks. In response, practices were introduced to minimise contact between infected
and non-infected people. After germ theory, specific pathogens/mode of transmission could be linked to a particular disease improving
prediction/control.

Historical: lack of scientific knowledge meant cultural values/beliefs influenced more e.g., bubonic plague which killed 25+ million people was
attributed to the wrath of God punishing sinful behaviour.  limited success predicting/controlling outbreaks.
 Late 14th century: link was made between the plague/movement of symptomatic people. Response: quarantine was introduced in
European ports  Ships were required to remain at anchor for 40 days before crew could leave (reduced transmission).
 Mid-1840s Semmelweis: developed early antiseptic procedures (handwashing prior to performing medical procedures). Made
connection between women dying during childbirth from puerperal sepsis, and doctors delivering babies after performing autopsies.
Predicted antiseptic procedures prior to childbirth would reduce morality. 20% chance of dying during childbirth.  less than 2%.
 1854: John Snow mapped the number of cholera (water borne disease) cases. He determined that the cause of the outbreak was a
contained water well. His discovery provided the first indication that cholera could be controlled by maintaining clean water sources.

Cultural strategies: cultural beliefs can contribute to the prevention and control of disease spread. e.g., for over 4000 years, Greek, Roman and
Chinese cultures disinfected water by either boiling/charcoal filtration (iron particles attach to dirt/pathogens)- the link had been made
between consumption of dirty water and disease. Some cultural practices can promote spread of infectious disease e.g., in West Africa burial
ceremonies involve direct contact with deceased individual (Ebola virus: transmitted through direct contact, highly contagious. Morality rate of
90%). Epidemics were brought under control through improved public health/education campaigns and enforcement of safe burials.

Current strategies: WHO uses satellite imagery and global climate patterns to develop models that can be used to track/predict the spread of
seasonally linked diseases e.g., malaria, and zika virus allowing control measures to be implemented prior to the outbreak to reduce
transmissions. R0 value: indicator of how contagious an infectious disease (determined by no. of new individuals a continuous person will
infect in 24 hours). Used to predict if control measures are working. The goal is to reduce R 0 to less than 1 (1 is stable).

Bush medicine: historical/traditional use of native Australian plants for both physical/spiritual healing by Indigenous Australians for over
50,000 years. Research discovered active ingredients e.g., anti-canner/antiviral properties. Pharmaceutical companies seek to patent active
ingredient to ensure financial benefit from their research. Raises ethical/legal concerns as to who has legitimate ownership of the intellectual
property, given that Indigenous Australians have used the product for thousands of years, without knowledge of the active ingredient.

Smoke bush (1980s): was found to contain an active ingredient that could destroy HIV in low concentration. 1990s: an Australian
pharmaceutical company was awarded an exclusive licence to develop the patent for a conocurovone-based drug to treat HIV. The projected
royalties if successful were estimated at $100mill/yr. Indigenous people were not consulted about collection/testing of plants and received no
financial benefit/acknowledgement despite the cultural importance of the plant and their knowledge of its medicinal properties.

Kakadu plum: found in northern Australia. Indigenous people have used the Kakadu plum for over 40000 years as a source of food and for its
natural healing properties to treat colds, flu and headaches. Extracts were used as an antiseptic balm to treat ailments e.g., rheumatoid
arthritis and infections. Kakadu plum as has the highest vitamin C of any fruit and strong antioxidant properties that support the immune
system in fighting infections and prevents scurvy (nutritional disease).
 Studies: found the fruit is a high source of gallic/ellagic acid which have been linked to health benefits e.g., anti-cancer, anti-
inflammatory and antimicrobial effects. Several pharmaceutical/cosmetic companies have lodged patents to gain exclusive licensing
rights to the research and any economic benefit derived from the fruit. E.g., in 2010 a US company Mary Kay applied to patent the
gallic and ellagic acid extracts for their antioxidant properties and ability to repair damaged skin/reduce collagen breakdown. In
2021, Mary Kay withdrew the patent application due to concerns raised by local Indigenous Australian representatives AND tighter
government regulations (response to a similar case that occurred with smoke bush).
Indigenous Cultural and Intellectual property laws: protect against exploitation of traditional arts/culture, creating an appropriate balance
between competing interests. Any financial benefits gained from research into bush medicines must now be shared with ATSI communities.
Homeostasis: self-regulating process where a living organism can maintain internal stability within narrow limits (allows for optimal metabolic
regulated by activity/maintenance of health) while adjusting to changing external/internal conditions. Change via a stimulus from stable state is
nervous/ detected by a receptor (detects changes from steady state via eternal (ears)/internal (nerve cells) receptors e.g., thermoreceptor) 
endocrine receives/transmits an impulse to control centre (sets acceptable upper/lower limits for a variable and decides appropriate response) 
system. sends a signal to the appropriate effector (carriers out response e.g., muscle/glands)  body counteracting changes from stable state.
Vasocontraction Narrowing/constriction of blood vessels by small muscles.
Vasodilation Widening of blood vessels to allow more blood to flow through them/lower blood pressure.
Hypothalamus Control centre for homeostasis, located in the brain. Links endocrine/nervous system.
Islets of Langerhans: islands of endocrine cells (alpha/beta) scattered throughout the pancreas (organ of digestive/endocrine system).
Nervous system sends very fast/precise electrical impulses through nerves, brain, and spinal cord. Coordinates its actions and sensory information by
transmitting signals to/from different parts of the body.
Negative feedback loops: senses change/activates a process to negate the change.
  Thermoregulation: ability of an organism to maintain its body temperature within a certain range independently of its external
environment. Ensures structural integrity of enzymes that catalyse cellular reactions, which are only optimal at certain temperature.
e.g., wrong temperature could stop ATP production.
 Osmoregulation: active regulation of osmotic pressure (water/salt balance) of body fluids to maintain homeostasis of water content.
Abnormally low/high concentration of sodium can lead to health problems e.g., nausea, muscle weakness, seizures, or even death.
 Glucose levels: simple sugar. Important energy source in living organisms. Requirement to produce adenosine triphosphate (ATP-
carries energy for most chemical reactions within a cell) during cellular respiration. Need to be maintained for health/survival.
Thermoregulation Glucose regulation Osmoregulation
Increase Response Heat lost via radiation from skin + Perspiration Liver cells activated to take up Binding of ADH to collecting duct of
detected secreted thus body temperature decreases. glucose and store as glycogen. nephrons reduced.
Body cells take up more glucose. Reabsorption of water reduced.
Blood glucose levels decrease. Blood water levels decrease.
Effector Muscles cause vasodilation of blood vessels to Insulin-secreting cells of pancreas Pituitary gland stimulated to produce
increase flow of heat to the skin, Sweat glands stimulate release of insulin into blood less ADH (Antidiuretic hormone).
activated- secrete salt and water follows due to binding with cells allowing for
osmosis (sweat evaporates cooling skin). glucose uptake
Control Hypothalamus activates cooling mechanism. Glucoregulatory neurons activate Hypothalamus activates response.
centre (physiological) response mechanism
Receptor Change detected by thermoreceptors in Detected by insulin-secreting (beta) Change detected by osmoreceptors
hypothalamus. cells of pancreas. in hypothalamus.
Stimulus Body temperature increases e.g., exercise. Increase blood glucose (after eating). Increase blood-water: over-hydrate.
Normal 35.6-37.80 4.0-7.8 mmol L-1 glucose 135-145 mEq L-1 (sodium levels)
Decrease Stimulus Body temperature increases- cold environment. Decrease in blood glucose- fasting Decreased blood water- lack of water
detected Receptor Change detected by thermoreceptors in Detected by glucagon-secreting Change detected by osmoreceptors
hypothalamus. (alpha) cells of pancreas. in hypothalamus.
Control Hypothalamus activates heating mechanism Glucoregulatory neurons activate Hypothalamus activates response.
centre response mechanism.
Effector Muscles cause vasoconstriction of the blood Glucagon-secreting cells of pancreas Pituitary gland stimulated to produce
vessels decreasing flow of heat to skin, shivering stimulated to release glucagon into more ADH.
increases production of heat by muscles, blood.
“goosebumps” trap air between the hairs,
Adrenal glands secrete stimulatory hormones to
increase metabolic rates  heat production.
Response Blood diverted away from skin surface to reduce Liver cells break down glycogen and Blood water levels increase.
heat loss + Shivering causes increased body release glucose into the blood. Binding of ADH to collecting duct of
temperature. Blood glucose levels increase. nephrons increases. Increased
reabsorption of water.
Mechanisms used to maintain internal environment within tolerance limits:
Endotherm: organism that uses energy to regulate its internal body temperature e.g., mammals and birds.
Ectotherm: organism whose regulation of body temperature depends on external temperature e.g., fish, reptiles, amphibians, invertebrates.

Behavioural adaptations: patterns of behaviour an animal does in response to some type of external stimulus to survive e.g., regulate their
body temperature. Koalas adopt different body postures in trees, depending on external temperature. Hot weather: more of body is in contact
with the tree trunk/large branches which are cooler than the air, increasing heat loss through the tree. Cooler weather: opposite.
Thermoregulation Adaptation
Hypothermia Keep body heat- Physical postures (basking, rolling into a ball), nest building, grouping strategies (huddling- penguins, nest-sharing)
avoidance Enhance body heat production- Increased movement/energy intake e.g., through eating more.
Hyperthermia To dissipate body heat- Habitat selection (places with shade/water), physical postures (stretching out body), and panting.
avoidance Decrease body heat production- Reduced movement/decreased energy intake i.e., less eating.
Structural adaptions: physical features of an organism that assist in maintaining homeostasis e.g., body shape, colour/thickness of fur. Allen’s
rule states that there is a trend in the length of limbs and appendages in relation to the climate. SA:V ratio affects the amount of heat lost to
air. Arctic hare: rounded body, short limbs and ears. Black-tailed jackrabbits live in hotter climates and have thinner bodies and longer limbs
and ears. For antelope jackrabbits: vasodilation of blood vessels in ears allow heat to be lost to air.

Physiological adaptations: occur within an organism to regulate/maintain homeostasis. E.g., changes in heart rate, oxygen uptake and
hormone levels. Antidiuretic hormone (ADH) regulates the amount of water in the body. Its release from the pituitary gland prevents kidneys
from making too much urine (water retention). Marsupials: spectacled hare wallaby (shelters in spinifex brushes during temperatures over 40
degrees/dry weather. Uses ADH as an adaption to reduce urine production/retain water). Rothchild’s rock wallaby (Relies on reduced blood
flow to the kidneys and seeks out cool rock shelters allowing regulation of its internal water levels.) both live in arid environments.
 Excretion: (sweating/urination), removal of metabolic wastes/excess material (CO2, nitrogenous wastes, excess salts/water),
assisting in homeostasis. Kidney’s filter nitrogenous wastes (highly toxic ammonia occur as by-products of protein metabolism
needing to be diluted). Some organisms use energy to convert ammonia to urea (mammals/ amphibians) or uric acid (birds turn
ammonia into a concentrated paste), which are less toxic. Converting ammonia to urea requires less energy. However, urea requires
more water to dilute. Ammonia is excreted by aquatic species.

Kangaroos: lick their forearms + their saliva evaporating to help them cool. Seek shade (B). Produce sweat to reduce temperature (P). Produce
dry faeces and concentrated urine to help conserve water (P). Forearms are thin with dense networks of surface capillaries- aid heat loss (S).
 Endocrine system: Messenger system comprising feedback loops of hormones released by glands directly into circulatory system and
target/regulate organs and all biological processes e.g., development of brain/nervous system, metabolism. Lasts longer/more general.
Types Solubility + Chemical structure. Mode of action Examples
Steroid Fat soluble. Made from cholesterol acting as Slow onset but long lasting, travel in blood attached to a water-soluble Testosterone,
chemical messages. carrier protein, freely diffuse across plasma membrane, bind to protein oestrogen, and
receptors in the cytoplasm and nucleus to activate gene transcription. progesterone
Peptide Water soluble. Small chains of amino acids Fast acting, travel freely in the blood, can’t move across plasma Insulin and
membrane, bind to receptors on cell surface to activate signal oxytocin.
transduction/gene transcription.
Amine Fat/water. Derivatives of tyrosine (takes Share properties with steroid and peptide hormones. Adrenaline.
amino acid tyrosine and is changed slightly
into a different chemical).
Hormones: signalling molecules secreted by endocrine glands, to maintain homeostasis. Hormones travel in the blood and in the fluid between
cells. Chemical structure determines its solubility, the way it travels through the body and how it interacts with cells. Each type of hormone
affects cells at different distances. Some bind to a specific receptor on many types of cells, others only bind to a receptor on specific cells.
Hormone AUTOCRINE: Signals to itself. Localised effect, PARACRINE: signals to neighbouring target cells ENDOCRINE: Signals to cells at distant
signalling cell releases a hormone that is recognised by in neighbouring tissue. Causes a quick response sites in the body via the bloodstream
itself, occurs during early development/ last a short time, hormone is quickly degraded. Slow onset but long-lasting effects,
infections. Activate themselves. produced by cells in endocrine glands.
Example T-lymphocytes release a hormone in response Blood clotting. When a blood vessel is damaged, Menstrual cycle. Luteinising/follicle-
to a viral infection, which stimulates broken endothelial cells release von Willebrand stimulating hormone are produced in
production of more lymphocytes to kill factor which stimulus the production of platelets, pituitary gland and target ovary to
infected cells. clotting the blood/‘patch up’ the wound. produce and release mature eggs.
Plant hormones: are produced in stem tip, buds or root tips. They travel through phloem/xylem + pass between cells through plasmodesmata.
Hormone Function
Auxins Control primary elongation of stems and inhibit lateral growth of branches. Control the growth of stems toward light (phototropism).
Cytokinin Produced in tips of roots and travel upward through the xylem. Promotes cell division in growth areas. Balance between auxins/cytokinin’s
determines whether the plant produces roots or shoots.
Gibberellins Trigger seed germination/growth of stem between internodes (places from which leaves grow).
Ethylene Gas produced by plants that stimulates ripening of fruit, loss of leaves and flower death.
Abscisic acid Synthesised in chloroplasts of leaves- signal of dehydration. Regulates water loss by controlling the opening/closing of stomata.
Water balance in plants: plants need water for photosynthesis, respiration and transport of nutrients/hormones. Water is drawn upwards into
the plant through the xylem by root pressure and capillary action. The passage of water from the roots to the organs, is the transpiration
stream. Stomata (openings on underside of leaf; each pore is surrounded by a guard cell) play a critical role in transpiration/water balance.
Functions: gas exchange and regulation of water movement by transpiration (Stomata open = increased CO2 uptake/transpiration + allows for
photosynthesis). Plants need to balance CO2 intake, needed for photosynthesis and growth, with the loss of water by transpiration (Stomata
close prevents water loss). Pore size is regulated by active transport of potassium ions/osmosis, which changes the turgor of guard cells which
expand/contract depending on the time of day/environmental conditions.
 Physiological adaptation: Stomata open during the day when photosynthesis occurs and close at night to reduce water loss. When
water is scarce or salinity is high, the hormone abscisic acid binds to proteins in guard cells, which results in shrinkage of the guard
cells and closure of the pore  disrupts photosynthesis/growth but will only change when stress signal is reduced.
 Structural adaptions: to minimise water stress. Plants in arid climates: (Cacti) have a reduced number of stomata, leaves with a waxy
(hydrophobic) surface and a reduced surface area, to minimise water loss via transpiration. Succulent plants: can store water in their
leaves/stems. White mangroves secrete excess salt through glands near the tip of each leaf stalk.

Neutral pathways: Neutral system: control centre in negative feedback loops that maintain homeostasis. A change detected by a receptor is
transmitted as an electrochemical signal along nerves to a brain, which results in a response. Vertebrate nervous system has 2 main parts:
 Central nervous system: Brain: processing centre of body made up of cerebrum (performs higher functions e.g., vision hearing,
speech, emotions), cerebellum (coordinates muscle movement, maintains balance/ posture) and brainstem (connections cerebrum/
cerebellum to spinal cord/performs automatic functions e.g., breathing) AND spinal cord: extension of brain that carriers electrical/
chemical signals between the brain/PNS)
 Peripheral nervous system (PNS): consists of all the nerves that branch out from the brain/spinal cord, divided into the somatic
(voluntarily actions) + autonomic nervous systems (actions done without thinking consists of sympathetic- involuntary response to
danger, parasympathetic- rest/digest conditions and enteric- mesh-like system of nerves in gut that coordinate digestion)).

Neuron: specialised type of cell that has dendrites (neuron receives a signal from another neuron), axon (where a neuron sends a signal to a
neighbouring neuron) and a cell body (soma where cell nucleus is located). Are responsible for sending/receiving neurotransmitters (chemicals
that carry information between brain cells). Multiple axons = fibre. Fibres group = nerve. Signals travel through neurons as an action potential.
Neighbouring neurons are separated by a small gap- synapse. When an action potential reaches the end of a neuron, it triggers the release of
neurotransmitters which travel across the synapse and bind to receptors on the next neuron and the message continues.
 Nerves are classified as Afferent (sensory neurons. Receive an input from the environment e.g., light and transmit it to CNS) or
efferent (motor neurons that transmit signals in the opposite direction from the CNS to organs/muscles to initiate an action) based
on the direction of the information flow. There nervous system of invertebrates don’t have a CNS.
 Hydra: lack a brain. Have a net of nerve cells dispersed across body. Arthropod (bee): small brain, ventral nerve cord + ganglia
(cluster of connected neurons along nerve cord). Mollusc (octopus): Neurons organised into specialised lobes. Similar eyes struct.
 Non-infectious diseases: caused by interactions between genes/environment (not contagious) e.g., genetic mutations. In higher income
countries they are becoming more common because of unhealthy diets, more sedentary lifestyles and longer lifespans.
Genetic diseases: caused by germline/somatic/mitochondrial mutations.
 Cystic fibrosis: autosomal recessive disease caused by germ-line mutations in the cystic fibrosis transmembrane conductance
regulator (CFTR) gene, which encodes a protein that maintains salt/water levels. Caused by: deletion of a single amino acid
(F508del). The gene is transcribed but the polypeptide doesn’t fold correctly, and it is degraded. Causes: accumulation of thick mucus
in lungs, persistent coughing/difficulty breathing. Life expectancy: 40-50 years.
 Mitochondrial diseases (inherited by the mother): Generally, cause muscular/neurological problems, because these cells need high
amounts of energy (MELAS syndrome). Severity depends on proportion of mutated mitochondria.

Cancer: disease caused by the uncontrolled growth of abnormal somatic cells. Results in the formation of a tumour or accumulation of
abnormal cells in the circulatory system (Blood cancer). Tumours can be benign (localised/will not cause long-term health problems) or
malignant (cancer cells invade nearby tissues and spread to body parts through the circulatory system- metastasis). Although a primary
metastatic tumour can be removed by surgery, the metastatic cancer cells settle at distant sites in the body, where they form secondary
tumours, causing organ failure/death. Caused by mutations in genes that regulate normal cell division/DNA repair- tumour suppressors (slow
down cell division, repair errors in DNA) OR create oncogenes: activate signalling proteins/transcription factors that promote cell division.
 Most cancers (90-95%) are caused by mutations in somatic cells (sporadic cancer). 5-10% are hereditary cancer caused by germ-line
mutations. E.g., BRCA1 mutation (breast cancer) is hereditary.
 Melanoma: cells in skin divide uncontrollably due to changes in genes that control cell division. Caused by exposure to UV radiation.
When left untreated spreads to deeper layers within the skin. Symptoms: fatigue, lump/thickening of skin, weight changes, skin
changes etc. Treatments: Surgery, Chemotherapy: using drugs to stop/slow cancer cells dividing/replicating. Radiation therapy: high
power beams to kill melanoma.

Diseases caused by environmental exposure: e.g., inhalation of chemicals, radiation exposure. Smoking and lung (two sponge-like organs in
the chest that deliver oxygen to the blood/remove C02) cancer: Lung cancers normally start in the cells that line the bronchi, bronchioles and
alveoli. 70 chemicals in cigarettes are carcinogen, produced when tobacco is burned/inhaled into the lungs (benzo(a)pyrene (BP))  when
inhaled, enzymes metabolise BP into a compound that binds to guanine causing DNA to bend, resulting in G-to-T transversions  causes
uncontrolled cell division in the lungs that metastasises. Decreases in mortality from: ‘Quit for life’ educational program, ban of smoking in
public places, health campaigns to assist people to stop smoking and plain packaging laws. Tobacco causes 85% of lung cancers (link in 1940s
epidemiological studies). 1960s: discovered chemicals in cigarettes bind to/mutate DNA.

Diseases caused by autoimmunity: immune system recognises cells of the body as ‘non-self’, attacking them (beta cells) and causing damage.
 Type 1 diabetes: caused by body’s inability to produce insulin (Immune system destroys beta cells in pancreas that produce insulin.
Glucose cannot enter the cell) to regulate the level of glucose in the bloodstream. Healthy Pancreas: Glucose triggers release of
insulin from beta cells in the islets of Langerhans in the pancreas. Insulin binds to a receptor on the surface of cells, to activate a
membrane transport protein (GLUT4) shuttles glucose into the cell. Usually, insulin increased after a meal.
 Effects: kidney damage (diabetic nephropathy) and loss of vision (diabetic retinopathy), which occur because of damage to/
narrowing of capillaries in kidneys/eyes. Symptoms: poor blood circulation/nerve damage in the legs and feet (diabetic neuropathy).
Increased risk of cardiovascular disease, stroke and erectile dysfunction. Treatment: with insulin injections.

Nutritional diseases: caused by deficiencies in diet, absorption problems, overnutrition or eating disorders. Obesity/type 2 diabetes (90-95%
of all diabetes): excessive accumulation of fat (BMI over 30 + a large waist circumference). Caused by: consumption of more calories than are
burned by the body. More common because of increased consumption of processed food, drinks high in sugar and sedentary lifestyles (more
common in developed countries). Obesity increases susceptibility to Diabetes 2: people produce insulin but the body does not use it effectively,
so glucose does not enter the cells, resulting in the accumulation of glucose. Body may eventually stop producing insulin.

TYPE 2 DIABETES: Early diagnosis is essential to prevent long-term health complications. Managed with simple lifestyle changes: e.g., healthy
diet low in processed food, regular exercise, and fewer sedentary periods. Treatment/management plans: medications, insulin therapy or
weight-loss surgery. People with type 2 diabetes need to regularly monitor their blood glucose levels with a blood glucose meter: measures
the concentration of glucose in blood, especially before/after a meal or exercise.
Drug How? Each drug works by controlling either the level of blood glucose/insulin in body Side effects
Metformin Lowers glucose production in liver. Makes body more sensitive to insulin- used efficiently. Nausea, diarrhoea, abdominal pain
Sulfonylureas Help body to secrete more insulin Weight gain/low blood sugar levels
Glinides Stimulate pancreas to secrete more insulin
Insulin therapy Increases amount of insulin in body Risk of low blood sugar, high cholesterol
Weight-loss surgery (management $18-23,000) changes shape of digestive system to limit amount of food that can be eaten. Side effects:
reduced uptake of nutrients. Best way to manage is through lifestyle (reduces likelihood of medical intervention AND benefits society because
it reduces the cost of treating medical complications caused by the disease). Advancements:
Future direction Description
Artificial pancreas digital device behaving like a pancreas by releasing insulin into the body in response to changes in blood glucose levels.
Islet cell transplantation Healthy islet cells which contain beta cells that produce insulin, may be transplanted into pancreas of people with the disease.
New drug development May be more drugs available in the future/personalised medicine.
Genetic testing Whole-genome sequencing and GWAS may identify SNPs/alleles that increase the risk of type 2 diabetes. Prevention strategies
could start earlier in people carrying variants.
Incidence: number of new cases of a disease in a population in a specified time period (allows comparison of data sets between populations).
Prevalence: total no. of disease cases in a population at a given time (proportion, percentage or no. of cases per 10,000).
 Mortality rate: number of deaths in a population in a specified time. Useful to assess general health of a population.
 analyse patterns of non-infectious diseases in populations, including their incidence and prevalence:
Step 1: Read the title. E.g., see if it has incidence or prevalence data. (New cases/rate for incidence v. a percentage for prevalence). Read scale.
Step 2: Identify trends + Relate this to knowledge. TREND: Increased incidence of breast cancer (caused by mutations in tumour suppressor
genes/oncogenes), but a slow decline in mortality rate. KNOWLEDGE: Breast Screen Australia tries to reduce illness/death from breast cancer.
Women 40+ can get a free mammogram every 2 years, and women 50-74 are actively invited to get a mammogram. Increased testing/better
technology have means that breast cancer is detected more often, but earlier  treated successfully  lower mortality.
Epidemiological study: are Descriptive study: uses exiting data to understand patterns that can be attributed to a disease/event. Takes a
‘snapshot’ of proportion of people with a disease or an outcome at a point in time. OR Analytical studies: observational (establish cause of a
non-infectious disease by analysing association between an exposure and an outcome. Main types: cohort studies and case-control studies.

Cohort study (prospective- follows a large group of people over time and measures frequency of disease in exposed/non-exposed individuals).
Begins with the recruitment of a large group of people who do not have a disease and are representative of population. Each person is
interviewed at the beginning of study to gather data and are followed over time with regular interviews being conducted. Once data is
disease
( )
exposure
gathered a relative risk , is calculated to indicate likelihood that a particular exposure increases risk of the non-infectious
disease
( )
no exposure
disease.
Framingham Heart Study: by US Public Health Service (1948) to investigate risk factors for cardiovascular disease. Studied 5,200 people
between 30-62 without CVD. Renewed (2019) with $38mill funding from National Heart, Lung, + Blood Institute (NHLBI). Responsible for
numerous research breakthroughs. Smoking’s contribution to HD risk (1960), benefit of physical activity + obesity increasing HD risk (1967).
 Data should be collected at regular intervals to get an accurate measurement. Study should follow for enough time for the disease to
be detected. Attempts to avoid bias as people are representative and is prospective. Large numbers of people required. Study design
may not be suitable if investigating a rare disease. Lengthy/expensive. Difficult to get follow-up data for some patients who moved.

Case-control study (retrospective- disease status of individuals is known at the start and researchers work backwards; to measure frequency
and amount of exposure in people with (cases) and without the disease (controls). Begins by identifying cases/controls who are like each other
(to minimises confounding variables). Gather information using interviews or surveys. Odds ratio: calculated from data to determine whether
there is a significant association between an exposure/disease. An odds ratio > 1 is evidence that the exposure causes disease.

1950 Doll and Hill study: After WW1 there was a rapid increase in lung cancer, appearing to correlate with an increase in tobacco
consumption. Interviewed patients from 20 London hospitals. Interviews were conducted twice many months apart to confirm responses.
About 2000 cancer cases were recruited to study. Note: separate analysis distinguished between someone who had smoked at any time in
their life, smoked a pack a day or had quit at some point in their life. Odds ratio of 14  tobacco is a significant risk factor for lung cancer.
 Well suited to investigating rare outcomes or slow-developing disease. Relatively inexpensive- quick to conduct and required fewer
subjects. Cases were matched as closely as possible to controls. Questionnaire could distinguish different types of smokers.
 Information on past history was subject to recall bias (difficult or impossible to validate information). Recruiting the control group
from a hospital could introduce other confounding variables such as other health issues. Participants with lung cancer may provide
more detailed information than those without it because they are motivated by wanting to understand why they have lung cancer.

Epidemiology: field of research in which large populations of people are studied to provide insights into patterns, risk factors and exposures
associated with diseases and to determine the presence/absence of conditions). Statistical methods determine whether there is a statistically
significant relationship. Conclusions are used to inform public health programs to control/prevent/treat diseases. Epidemiological reports
require data accuracy/validation and needs to provide a correlation.
 Down syndrome (trisomy 21): genetic disease that is caused by 3x chromosome 21. Correlation between age of the mother and
incidence of disease (35-year-old woman has a 1 in 2350 chance whereas a 45-year-old woman is 1 in 30). All pregnant women 35+
are offered prenatal testing; used to detect birth defects/genetic diseases.
 Cardiovascular disease: Education/public campaigns that make people aware of risk factors (diet, physical activity, alcohol, smoking)
provides information that can motivate people to change their lifestyles.
 Data often gives a statistical probability of getting the disease for a particular population which causes some people to ignore the
data and some people to need counselling when given their chances of developing a particular disease.
 Provides individual people with the information to reduce risk factors and for society to bring in legislation, codes of practice and
public health campaigns that will reduce the incidence, prevalence and mortality rates. Improves knowledge of the causes of non-
infectious diseases and helps to develop treatment/management methods.
Study type Benefits Limitation
Case Individual satisfaction from contributing to knowledge about health Individuals are unlikely to benefit directly from participation.
control: for future generations/benefit other people. Society benefits from Retrospective nature can make data more subject to bias from
addition of knowledge about exposure/risk factors. recall. Needs to be a suitable matching of cases with controls.
Cohort: Individual satisfaction from contributing to knowledge about health Individuals are unlikely to benefit directly from participation.
for future generations. Society benefits from prospective Large cohort studies can be expensive/timely with many years of
measurement of different exposures/correlating these with disease. follow-up required.
Educational programs/campaigns (encourage lifestyle modification): SunSmart program: skin cancer (melanoma) is the most common cancer
in Australia- changes in behaviour to reduce our exposure to the sun. Over past 40 years, SunSmart program improved people’s awareness of
the link between skin cancer/sun exposure through television advertisements (e.g., Slip! Slop! Slap! Seek! Slide!) and a free app that provides
daily information about UV light levels. One of Australia’s most successful health education programs. Estimates: prevented 43,000+ skin
cancers and 14000 skin cancer deaths saving public healthcare system $92 million over its first 2 decades. $2.22 return for every dollar spent.

Genetic engineering: gene therapy can be used to treat/prevent non-infectious diseases. Replaces a defective gene with a functioning copy of
the gene via viral vectors or CRISPR-Cas9. Gene therapy was approved for use in Australia (2021) to treat a type of retinal dystrophy that is
caused by an autosomal recessive mutation in the RPE65 gene causing blindness at a young age. Gene therapy restores vision by introducing a
functioning copy of RPE65 into the retinal cells using a viral vector (infects cells in retina inserting a functioning copy of gene, improves vision/
photoreceptors). 2021: CRISPR-Cas9 was used in USA to treat sickle cell disease by editing genes involved in globin expression. Future: CRISPR-
Cas9 may be used to correct an inherited mutation in an embryo e.g., F508del mutation in the CFTR gene that causes cystic fibrosis.

Mitochondrial transfer: technique that can prevent non-infectious diseases caused by mutations in mitochondrial genes. MELAS syndrome:
caused by mutations in the MT-TL1 gene, which affects the nervous system/muscles. A child born using mitochondrial transfer will have
genomes from 3 parents: nuclear DNA from father’s sperm, the nuclear DNA from mother’s egg and the mitochondrial genome from the donor
egg. Expensive (1-2 mill) and only prevent disease in a small number of people- inaccessible. Process: Egg containing mitochondria with
mutation, nuclear DNA is removed and transferred into donor egg with healthy mitochondria, donors nuclear DNA is removed.

Population screening: National Bowel Cancer Screening Program- relatively cheap medical tests of at-risk members of the community to
detect diseases at an early and treatable stage. Aims to reduce the number of bowel cancer deaths by detecting it at an early stage with faecal
occult blood tests. Incidence of bowel cancer increase after the age of 40 years and the tests are free to Australians aged 50-74 years. Bowel
cancer begins as a slow-growing benign polyp that releases small amounts of blood, which mixes with faeces. Can be tested for with a free
collection kit. If blood is detected, the person may have a colonoscopy, and the polyp can be removed before it turns into cancer. 2017 study:
Cancer Council Australia screening for bowel cancer can reduce deaths from the disease by 15-25%.

HEARING LOSS: Sound (longitudinal wave)- vibrating particles move back and forth in the same direction as wave movement). Amplitude
(decibels): higher amplitude = louder. Auditory field: 20-20000 Hz. Hearing enables us to communicate/respond to stimuli. Ear is divided into
outer ear (captures sound waves), middle ear (transfers vibrations to inner ear (converts vibrations into nerve impulses- interpreted by brain)).

Sound enters (vibrations)  Auricle (O- fleshy part of ear)- directs sound waves into Auditory canal (O- curved tube)  directs sound waves to
tympanic membrane/eardrum (M)  transfers vibrations to ossicles (M- 3 bones: malleus (hammer), incus (anvil) and stapes (stirrup)) 
amplify pressure of sound waves as they are transmitted to oval window (M)  transmits vibrations from stapes to cochlea  Round window
(I)- equalises pressure in cochlea when oval window vibrates  Eustachian tube equalises air pressure on both sides of eardrum  cochlea
(snail-shaped spiral tube filled with fluid, contains organ of Corti)- vibrations cause basilar membrane (hair cells) to flex to bend which press
against the tectorial membrane releasing of neurotransmitters  Nerve transmits sound information to brain.

Causes of hearing loss: mild/profound. Categorised based on which region of ear is affected. Conductive hearing loss (usually temporary):
sound cannot reach inner ear, caused by defects in outer/middle ear (blockage- ear wax/benign tumours, infections, perforated eardrum).

Sensorineural hearing loss (often permanent): occurs because of defects/damage of cochlea/auditory nerve. Causes:
 Congenital (absent at birth) + acquired from viral infections (chickenpox).
 Side effects from toxic drugs (e.g., cisplatin used to treat cancer)
 Syndromes e.g., Treacher Collins syndrome and germ-line mutations Loss of expression affects hair cells of cochlea.
 Age-related hearing loss: gradual loss of hearing in both ears.
 Physical trauma e.g., fractured skull or loud noise.
Other causes: small bones in middle ear are damaged/fused together- don’t carry sound vibrations to cochlea very well, hair cell receptors in
cochlea are damaged and have lost their sensitivity.

Cochlear implants: used by people with profound sensorineural loss when hearing aids are not beneficial. Bypass outer/middle ear and deliver
vibrations directly to auditory nerve (implanted into skull with 1+ electrodes connecting to auditory nerve). Sounds are picked up by an external
microphone  electronically analysed by processor unit  processor converts sounds into electrical signals  signals are transmitted as radio
waves through the flesh to implant (placed in skull)  transmitted through auditory nerve to brain. Normal hearing is not restored. A person
needs therapy/practice to learn how to hear. Expensive. Those born deaf and given an implant rarely learn to interpret new sensations/might
take years. If auditory nerve is damaged- doesn’t help. Can allow someone to perceive sound- enhances ability to communicate/respond.

Bone conduction implants: used to treat conductive/mixed hearing loss bypassing blocked outer ear  detects sound waves via microphone
and relay it to a sound processer that converts waves into vibrations (vibrations are transferred directly to cochlea to hear sound). System
consists of an external sound processor and implant.

Hearing aids: amplifies sounds to improve hearing in people with sensorineural hearing loss. Small, removable electronic devices that consist of
microphone- detects sound waves/converts them to electrical signals which are sent to an amplifier: increases power of the signals and then
sends them to the ear through a speaker. Improve hearing/speech comprehension. Can’t help a patient who is profoundly deaf (Only work if
there are some surviving hair cells in the cochlea).

EYES: receive/convert light into nerve impulses (interpreted by brain as images of objects). Amplitude = brightness. Red = longer wavelength.
Light enters eye through pupil  Contraction/retraction of muscles in iris (muscular ring around pupil) controls amount of light enters  Light
then passes through the cornea, lens (changes shape to focus light on retina/binocular vision helps with depth perception), and fluid-filled
eyeball, which refract light to a focal point on the retina at the back of the eye  Retina (consists of photoreceptors (TYPES: rod: very sensitive
to light but cannot differentiate between wavelengths AND cone: contain pigments- rhodopsin’s (red, green, blue) for colour vision) generates
a nerve impulse that is transmitted through a bipolar cell, a ganglion cell and then via the optic nerve to brain.
Cornea Transparent membrane made from collagen protein creates a barrier protecting the eye/refracts light rays.
Lens Transparent, biconvex, flexible protein disc which is the main refractive structure focusing light on retina.
Sclera Dense connective tissue around eye providing support/maintaining eyeball shape.
Aqueous Humour: Thin, transparent, water-like fluid which maintains pressure, providing eye with nutrition/refracts light.
Pupil Black opening at the centre of the iris allowing light to enter eye.
Ciliary body Ring of tissue containing the ciliary muscle holding lens in position and changing its thickness.
Vitreous Humour: Transparent gel-like substance between the lens + retina, maintains spherical eye shape and has some refractive ability.
Retina Light-sensitive layer of tissue at the back of eye converting light to electrochemical signals.
Macula Pigmented area near centre of the retina providing sharp, clear, straight-ahead vision.
Optic nerve Transmits nerve impulses from retina to brain.
Eye muscles Sets of muscles attached from the eye to bone, rotating eyeball in socket.
Visual disorders: Refractive errors (most common; light doesn’t focus properly on retina inability to change shape; generally genetic): myopia
(short-sightedness- eyeball too long), hyperopia (far-sightedness- eyeball too short), astigmatism.
 Presbyopia: eyes gradually lose the ability to focus on close-up objects, beginning in the early to mid-forties, caused by a hardening
of the lens which becomes less flexible (less able to accommodate light entering the eye).
 Macular Degeneration: Deterioration of cells in retina, resulting in loss of central vision.
 Retinopathy: blurry/loss of vision caused by damage to retina from damaged blood vessels. Symptom of type 1/2 diabetes.
 Cataracts: Blurry vision/cloudy resulting from the breakdown of proteins and fibres in the lens  caused by ageing/at birth/diabetes.
Glasses/contact lenses: Refractive errors can be treated with glasses (relatively inexpensive) or contact lenses (soft, flexible lenses which are
worn in contact with eyes conjunctiva).
 MYOPIA: corrected by concave lenses which refracts light rays, so they are diverging as they enter the eye making vision
clear/focused (focal point is forward)
 HYPEROPIA: Corrected by glasses containing convex lenses, compensating for the lack of refractive power of the eye’s lens. The extra
lens bends the light rays together, which brings the focus position forward and onto retina.

Laser surgery: changes shape of cornea permanently with corrective laser surgery (corrects angle of refraction so it focuses on retina).
 Lid speculum will hold the eyelid open  suction ring placed on the eye  corneal flap created and lifted to one side  pulses
from a computer-controlled laser reshape cornea by vaporising tiny portions of the interior  corneal flap replaced.
 Cataracts: Local anaesthetic microsurgery  removes cloudy lens caused by a cataract and an intraocular lens made from plastic is
inserted behind iris  correct focus/clear vision (takes 30 minutes and replacement lens cost is very low). The Fred Hollows
Foundation have restored the vision of over a million Cataracts sufferers in Africa, Asia, and the Pacific.

Bionic eye: future technology. Currently being trialled to restore sight in people with severe vision loss caused by degenerative diseases
(bypasses photoreceptors). Camera captures image/transmits data to an external body processing unit  Data processed and sent to
implanted system  Implant receives wireless signals and sends them to retinal implant  implanted electrode stimulates retina 
electrical signals sent from retina to vision processing centres in the brain.

KIDNEYS: two bean-shape organs- filter blood to remove nitrogenous wastes, excess fluids, and salts. Helps to balance water levels, salt
ions/minerals in body and produce hormones (e.g., renin) that regulate blood pressure, RBC production and absorption of calcium in intestine.
 Blood enters kidney via afferent arteriole  capillaries  millions of nephrons: act as filtering/reabsorption units (glomerulus:
cluster of narrow capillaries to Bowmans capsule (filters blood- only small particles e.g., water/dissolved minerals can enter
passively)  Proximal convoluted tubule (secretion: active transport of unwanted substances (drugs) from blood/reabsorption:
passive return of water, ions, and glucose from filtrate to blood), loop of Henle (main site of water reabsorption into blood)  distal
convoluted tubule (reabsorption of ions regulated by ADH). Substances that don’t get reabsorbed  collecting duct  ureter 
released through urethra (excretion). Urine: 95% water, 5% nitrogenous waste/ions e.g., sodium, H, K.
Causes of kidney disorders (both result in changed blood chemistry/accumulation of excess fluids, electrolytes + wastes) are acute- kidneys
lose ability to filter waste or chronic failure- gradual loss of function over years. Causes of acute:
 Reduced blood flow to kidneys: from blood clots/high cholesterol (block blood vessels leading to kidney), severe dehydration, liver
failure, infections, toxins, blood pressure medication.
 Urine blockages (prevent flow of urine): ureters blocked with tumours/kidney stones (hard mineral deposits that build up in kidney).
Diabetic nephropathy Diabetes symptom. Abnormal filtering from glomerulus into Bowman's capsule  blood cells/large proteins leaking into urine.
Hypertension (High blood pressure) walls of thin blood vessels (arterioles) in kidney thicken and reduce blood flow to kidney.
Glomerulo-nephritis Inflammation of glomeruli  occurs after a bacterial infection (common cause of kidney failure).
Interstitial nephritis Inflammation of kidney's tubules/surrounding structures
Pyelo-nephritis Recurring kidney infections caused by bacteria/viruses
Loss of kidney function: Each kidney performs half the kidney function in a body. A single kidney carry out 75% of normal function. If a
person’s kidney function decreases to about 10-15%, only treatment is dialysis/transplant. Loss could be due to nephron failure.
 Kidney transplant: using a donated kidney. Can be done when kidney is close to failing. People can register as organ donors.
Recipient must take anti-rejection drugs forever, to prevent kidney being attacked by their immune system (new act as antigens).
 Kidney stones: broken with stock waves into smaller stones which are passed naturally in
urine. Can also be surgically removed (nephrolithotomy) through a small incision in the back.
Dialysis: medical technique that replaces normal filtering function of kidneys, removing blood with
needle then passing through a selectively permeable dialysis tubing + returned. Urea diffuses from high
concentrations in blood  low concentrations in dialysate (urea is removed from blood).
Haemodialysis- most common (blood filtering occurs outside body in a hospital, a dialysis centre or at
home. Ideal for people with reduced kidney function. Takes about 4/5 hours, 3 days/week.) OR Peritoneal dialysis (continuous filtering of
blood inside body using lining of abdomen/belly. Can be done at home/work. Not as disruptive. Not suitable for people with
obesity/abdominal scarring- less effective).

Kidney (filters 200 L a day)/renal dialysis: Extends lifespan, Filters out waste, toxins, and excess water, increases energy levels. Improves
overall quality of life, works where kidney failure cannot (FSGS which can reoccur in transplants). Not a cure- need to plan life around dialysis
sessions (disruptive), Invasive: brings a vein to the surface, causes cramps/changes in blood pressure, Supplements/hormone therapy may be
needed to correct deficiencies (e.g., vitamin D), uncomfortable. Recovery time: 2-4h.
Designing experiments: remember a control (with nothing), have another variable e.g., just water. Repeat experiment, select appropriate
safety equipment including gloves and safety clothing, measuring techniques, incubation temperature.