Topic 6 – Inheritance &

Variation
Sexual Reproduction
Topic 6 – Inheritance &
Variation
Gametes
 •Type of reproduction
•Involves production of
gametes by meiosis
•Gamete from each parent
fuses to form a zygote
•Genetic info from each
 •Sex cells –
- Humans & animals –
sperm cells + egg
cells
- Plants – pollen + egg
cells
Topic 6 – Inheritance &
Variation
Meiosis
 Topic 6 – Inheritance &
Variation
1st stage of Meiosis
• Form of cell division involved in formation
of gametes (non-identical haploid cells) in
reproductive organs
• Chromosome no. is halved
• Involves 2 divisions
• Interphase – the process during which
copies of genetic info are made – must
occur prior to meiosis
• Meiosis important for sexual reproduction
 •After Interphase, chromosome
pairs line up along the cell
equator
•Pair of chromosomes separated
& move to opposite poles of
cell
•(the side to which each
 Topic 6 – Inheritance &
Variation
2nd stage of Meiosis
Topic 6 – Inheritance & Variation
Pros & Cons of
sexual reproduction
•Chromosomes line up along
the cell equator
•Chromatids separated &
move to opposite poles of
cell
•Cells divide again
Pros:
• Creates genetic variation in offspring –
< probability of a species adapting to +
surviving environmental changes
Cons:
• 2 parents required – makes
reproduction difficult in endangered
populations/species which exhibit
solitary lifestyles
Topic 6 – Inheritance &
Variation
Asexual
reproduction
Topic 6 – Inheritance & Variation
Pros & Cons
Asexual reproduction
 •Type of
reproduction
•Involves mitosis
only
Pros:
• Only 1 parent required
• Lots of offspring can be produced in a
short period of time, enabling rapid
colonisation of an area & reducing
competition from other species
• Requires less energy + time as don’t
need a mate
Cons:
Topic 6 – Inheritance & Variation
Circumstances in
which Malarial
parasites reproduce
Topic 6 – Inheritance & Variation
Circumstances in
which fungi reproduce
 •Sexual
reproduction in
the mosquito
•Asexual
 •Sexual
reproduction to
give variation
•Asexual
Topic 6 – Inheritance & Variation
Circumstances in
which plants
reproduce
Topic 6 – Inheritance &
Variation
Def: DNA
 •Sexual reproduction to
produce seeds
•Asexual reproduction by
runners (e.g. strawberry
plants) or bulb division
 A double-stranded
polymer of nucleotides,
wound to form a double
helix. The genetic material
of the cell found in its
Topic 6 – Inheritance &
Variation
Def: Genome
Topic 6 – Inheritance & Variation
Importance of
understanding human
genome
The entire genetic
material of an
organism.
 •Studying + understanding the
human genome’s important for the
development of medicine in the
future
•Searching for genes linked to
different types of disease
•Understanding + treating inherited
disorders
 Topic 6 – Inheritance &
Variation
Def: Chromosome
Topic 6 – Inheritance &
Variation
Chromosome
 A long, coiled
molecule of DNA that
carries genetic
information in the
 •A long, coiled molecule of
DNA that carries genetic
information in the form of
genes.
•Human body cells have 46
chromosomes (23 pairs)
Topic 6 – Inheritance &
Variation
Def: Gene
Topic 6 – Inheritance &
Variation
DNA Nucleotides
 A small section of DNA
that codes for a specific
sequence of amino acids
which undergo
polymerisation to form a
 •The monomers of DNA
•Made up of common sugar,
phosphate group & 1 of 4
bases: A, T, C or G
•Adenine
•Thymine
Topic 6 – Inheritance & Variation
How nucleotides
interact to form a DNA
molecule
Topic 6 – Inheritance & Variation
How a gene codes for
a protein
 •Sugar + phosphate
molecules join to form a
sugar-phosphate
backbone in each DNA
strand
•Base connected to each
•A sequence of 3 bases in
a gene forms a triplet
•Each triplet codes for an
amino acid
•Order of amino acids
determines structure (i.e.
Topic 6 – Inheritance & Variation
Importance of folding
amino acids to
proteins like enzymes
Topic 6 – Inheritance &
Variation
Def: Protein
Synthesis
•The folding of amino
acids determines the
shape of the active
site, which must be
highly specific to the
The formation
of a protein
from a gene.
Topic 6 – Inheritance & Variation
The 2 stages of
Protein Synthesis
Topic 6 – Inheritance & Variation
Protein Synthesis:
Transcription
 •Transcription & Translation
1.Transcription – involves the
formation of mRNA from a
DNA template
2.Translation – a ribosome joins
amino acids in a specific
order dictated by mRNA to
1. DNA double helix unwinds
2. RNA polymerase binds to a specific
base sequence of non-coding DNA in
front of a gene & moves along DNA
strand
3. RNA polymerase joins free RNA
nucleotides to complementary bases
on the coding DNA strand
 Topic 6 – Inheritance &
Variation
Protein Synthesis:
Translation
Topic 6 – Inheritance &
Variation
Def: Mutation
1. mRNA attaches to a ribosome
2. Ribosome reads the mRNA
bases in triplets. Each triplet
codes for 1 amino acid which
is brought to the ribosome by
a tRNA molecule (carrier
molecule).
A random change in the
base sequence of DNA
which results in genetic
variants. They occur
Topic 6 – Inheritance &
Variation
Mutation
Topic 6 – Inheritance & Variation
Effect of gene
mutation in coding
DNA
 • A random change in the
base sequence of DNA
•Usually, the protein coded
remains unchanged
•Sometimes, mutation results
in genetic variants of the
protein
 •If a mutation changes the amino
acids sequence, protein structure +
function may change
•This means an enzyme may no
longer fit its substrate binding site,
or a structural protein may lose its
strength
•If a mutation doesn’t change amino
Topic 6 – Inheritance &
Variation
Def: non-coding
DNA
Topic 6 – Inheritance & Variation
Effect of gene
mutation in
non-coding DNA
 DNA which doesn’t
code for a protein but
instead controls gene
expression.
•Gene expression
may be altered,
affecting protein
production & the
Topic 6 – Inheritance &
Variation
Def: Alleles
Topic 6 – Inheritance &
Variation
Def: a Dominant
Allele
 Different
versions of the
same gene.
A version of a gene
where only 1 copy is
needed for it to be
expressed.
Topic 6 – Inheritance &
Variation
Def: a Recessive
Allele
Topic 6 – Inheritance &
Variation
Def: Homozygous
A version of a gene
where 2 copies are
needed for it to be
expressed.
 When an organism
has 2 copies of the
same allele (2
recessive/dominant).
 Topic 6 – Inheritance &
Variation
Def: Heterozygous
Topic 6 – Inheritance &
Variation
Def: Genotype
 When an organism
has 2 different
versions of the same
gene (1 recessive & 1
 The genes
present for a
trait.
Topic 6 – Inheritance &
Variation
Def: Phenotype
Topic 6 – Inheritance &
Variation
Punnett Squares
 The visible
characteristic.
•DOMINANT ALLELES represented
using UPPERCASE LETTERS
•recessive alleles represented
using a lowercase version of the
same letter as the DOMINANT
ALLELE
•Probability of inheriting the gene
Topic 6 – Inheritance &
Variation
Punnett Square
E.g.
Topic 6 – Inheritance & Variation
The problem with
Single Gene Crosses
 •Most
characteristics are
controlled by
multiple alleles
Topic 6 – Inheritance &
Variation
Def: Inherited
Disorder
 Topic 6 – Inheritance &
Variation
Inherited Disorder
E.gs
A disorder caused
by the inheritance
of certain alleles.
•Polydactyly (having extra
fingers/toes) – caused by
a dominant allele
•Cystic fibrosis (a disorder
of cell membranes) –
caused by a recessive
Topic 6 – Inheritance & Variation
How embryos are
screened for Inherited
Disorders
Topic 6 – Inheritance & Variation
Ethical issues of
Embryo Screening
•During IVF, 1 cell removed
(from an 8 cell embryo) &
tested for disorder-causing
alleles.
•If it doesn’t have any
indicator alleles, then the
•Could lead to beliefs in society that
being disabled/having a disorder is
less human/associated with
inferiority
•Destruction of embryos with
inherited disorders could be seen as
murder
•Could be viewed as part of the
Topic 6 – Inheritance & Variation
Economic & Social
issues
of Embryo Screening
 Topic 6 – Inheritance &
Variation
Def: Gene Therapy
• If the child will have an inherited disorder,
cost of hospital treatment & medication +
receiving & financial support will need to
be considered explored
• Social care for kids with inherited
disorders may need to be considered if
parents are unable to provide care
• If an embryo with an inherited disorder’s
terminated, this can prevent a child & its
The insertion of a normal
allele into the cells of a
person with an inherited
disorder to functionally
replace the faulty allele
Topic 6 – Inheritance & Variation
Ethical issues of Gene
Therapy
 Topic 6 – Inheritance &
Variation
Sex chromosomes
 •Some people believe
that it’s going against &
‘playing God’
•Introduced genes could
enter sex cells & so be
 •A pair of chromosomes that
determine sex
•Males have an X & Y chromosome
•Females have 2 chromosomes
•A gene present in the Y
chromosome stimulates testes
development
•Most genes are found on the X
Topic 6 – Inheritance & Variation
Def: a Sex-linked
characteristic
Topic 6 – Inheritance & Variation
Why men are more
likely to show the
phenotype for a
recessive sex-linked
trait than women
A characteristic that’s
coded for by an allele
found on a sex
chromosome
 •Many genes found on X
chromosome that have no
counterpart on Y chromosome
•Women (XX) have 2 alleles for
each sex-linked gene whereas
men (XY) often only have 1
allele – only 1 recessive allele
Topic 6 – Inheritance &
Variation
Def: Variation
 Topic 6 – Inheritance &
Variation
Causes of Variation
Differences in the
characteristics of
individuals in a
population.
 •Genetics
•Environment
•A mixture of
 Topic 6 – Inheritance &
Variation
Genetic variation
Topic 6 – Inheritance &
Variation
Types of Gene
Mutation
•Variations in the genotypes
of organisms of the same
species due to the presence
of different alleles
•Caused by spontaneous
mutations + sexual
Substitution
Insertion
Topic 6 – Inheritance & Variation
Effects of Gene
Mutation on an
organism’s phenotype
Topic 6 – Inheritance &
Variation
Def: Selective
Breeding
•Neutral mutation – doesn’t change
sequence of amino acids – protein
structure + function the same – no
effect on phenotype
•Mutation may cause minor change
in phenotype, e.g. change in eye
colour
•Mutation may completely change
The process by which humans
artificially select organisms
with desirable characteristics
& breed them to produce
offspring with similar
phenotypes.
Topic 6 – Inheritance & Variation
Main steps of Selective
Breeding
Topic 6 – Inheritance & Variation
E.gs of characteristics
selected for Selective
Breeding
1. Identify desired characteristic
2. Select parent organisms that
show the desired traits &
breed them together
3. Select offspring with the
desired traits & breed them
together
•Disease resistance in
crops
•Higher milk/meat
production in animals
•Gentle nature in
Topic 6 – Inheritance &
Variation
Pros of Selective
Breeding
 Topic 6 – Inheritance &
Variation
Cons of Selective
Breeding
Useful in medical research +
sports. Creates organisms with
desirable features. E.g:
•Crops produce a higher yield of
grain
•Cows produce < supply of milk
•Plants produce larger fruit
 •Reduction in gene pool – very
harmful if sudden environmental
change occurs
•Inbreeding results in genetic
disorders
•Development of other physical
problems e.g. respiratory
 Topic 6 – Inheritance &
Variation
Genetic engineering
Topic 6 – Inheritance & Variation
Uses of genetically
modified plants +
bacteria cells
 •Modification of genome of
organism by insertion of desired
gene from another organism
•Genes from chromosomes of
humans & other organisms can
be cut out & transferred to cells
of other organisms
•Plants – disease
resistance +
producing larger
fruits
•Bacteria cells –
Topic 6 – Inheritance &
Variation
Pros of genetic
engineering
Topic 6 – Inheritance &
Variation
Risks of genetic
engineering
•< crop yield for growing population – e.g.
herbicide-resistance, disease-resistance
•Useful in medicine – e.g. insulin-
producing bacteria, possibility to
overcome some inherited disorders
•GM crops produces scarce resources –
e.g. GM golden rice produces beta-
•Long-term effects of consumption
of GM crops unknown
•Negative environmental impacts,
e.g. reduction in biodiversity,
impact on food chain
•Late-onset health problems in GM
animals
•GM seeds expensive – may be
Topic 6 – Inheritance &
Variation
GM Crops
Topic 6 – Inheritance & Variation
GM Crop Protection
against insects
 •GM crops =
Genetically
modified crops
•E.g. crops modified
 •Insect larvae are harmful to
crops
•Bt’s a bacterium which
secrets a toxin that kill insect
larvae
•The Bt toxin production gene
Topic 6 – Inheritance &
Variation
Pros of BT crops
 Topic 6 – Inheritance &
Variation
Risks of BT crops
 •< crop yield (fewer crops
damaged)
•Lessens the need for
artificial insecticides
•Bt toxin specific to certain
insect larvae so it isn’t
 •Long term effects of
consumption of Bt crops
unknown
•Insect larvae may become
resistant to toxin
•Killing insect larvae
Topic 6 – Inheritance & Variation
Process of Genetic
Engineering
Topic 6 – Inheritance &
Variation
Def: Vector
1. DNA cut at specific base
sequences by restriction enzymes
to create sticky ends
2. Vector DNA cut using same
restriction enzymes to create
complementary sticky ends
3. Ligase enzymes join sticky ends of
DNA & vector DNA, forming
A structure that delivers
the desired gene into
the recipient cell e.g.
plasmids, viruses.
 Topic 6 – Inheritance &
Variation
How can plants be
cloned
Topic 6 – Inheritance &
Variation
Tissue Culture
•Taking plant
cuttings
•Tissue
 • Using small groups of cells from part of a
plant to grow identical new plants.
• Ensure aseptic conditions prevent
contamination by microorganisms.
• Growth medium contains nutrients +
hormones.
1. Select a plant that shows desired
characteristics.
2. Cut multiple small sample pieces from
meristem tissue.
Topic 6 – Inheritance &
Variation
Pros of Tissue
Culture
Topic 6 – Inheritance &
Variation
Cons of Tissue
Culture
•Faster + simpler process
•Requires little space
•Enables growth of many
plant clones with same
desirable traits
•Useful in preservation of
 •Reduction in gene
pool
•Plant clones often
have low survival rate
•Could unknowingly
Topic 6 – Inheritance &
Variation
Plant Cuttings
Topic 6 – Inheritance &
Variation
Embryo
Transplanting
 • Older but simpler method than tissue
culture
• Used to produce identical new plants from a
parent plant
1. Branch cut off from parent plant.
2. Lower leaves of branch removed & stem
planted.
3. Plant hormones used to encourage new
root development.
4. Plastic bag used to cover up new plant to
 •Pre-specialised cells
from developing animal
embryo are split apart
•The resulting separate
but identical embryos
are transplanted into
 Topic 6 – Inheritance &
Variation
Adult cell cloning
Topic 6 – Inheritance & Variation
Jean-Baptiste
Lamarck’s theory of
Inheritance
1.Nucleus removed from unfertilised egg
cell
2.Nucleus from an adult body cell, like a
skin cell, inserted into egg cell
3.Electric shock stimulates nucleated
egg to divide & it forms an embryo
4.Embryo cells contain same genetic
info as the adult body cell
5.When embryo’s a ball of cells, it’s
 •Changes
during the
lifetime of an
Topic 6 – Inheritance &
Variation
Def: Species
Topic 6 – Inheritance & Variation
Mendel’s studies of
inheritance
 A group of organisms
with similar
characteristics which are
able to interbreed to
produce fertile offspring.
•Mendel studied inheritance through
breeding experiments on plants &
analysing the ratio of characteristics
in offspring
•Mendel’s work wasn’t recognised
until after his death cos he couldn’t
explain the mechanism of
inheritance (chromosomes
discovered after his death) + it
Topic 6 – Inheritance &
Variation
How fossils are
formed
Topic 6 – Inheritance &
Variation
Def: Extinction
•Parts of organisms that haven’t
decayed cos conditions needed
for decay were absent
•Parts of organisms that have
been replaced by minerals as
they decayed, e.g. bones
•Traces of organism preserved,
 Where there are
no individuals of a
species still alive.
 Topic 6 – Inheritance &
Variation
Factors leading to
Extinction
 Topic 6 – Inheritance &
Variation
Antibiotic Resistant
Bacteria
Competition
Catastrophic events
Predation
Environmental
 •Resistant strains of bacteria
dangerous cos people aren’t
immune to them + no effective
treatment
•E.g. MRSA
•Difficult to keep up with
resistant strains cos developing
Topic 6 – Inheritance & Variation
Reducing rate of
development of
Antibiotic Resistant
Bacteria
Topic 6 – Inheritance & Variation
Carl Linnaeus’s
classes of organisms
 •Refrain from
inappropriately
prescribing antibiotics,
e.g. for viral diseases
•Patients should complete
prescribed course of
•Kingdom, phylum,
class, order, family,
genus, species
•Kids prefer candy
over fresh green
Topic 6 – Inheritance & Variation
Traditional
classification
of living creatures
Topic 6 – Inheritance & Variation
Binomial System of
naming organisms
•Structure +
characteristi
 •Genus
name
followed by
Topic 6 – Inheritance & Variation
Why new classification
models were proposed
Topic 6 – Inheritance &
Variation
The 3 Domains
 •Developments in
microscopy allowed
better examination of
internal structures
•Improvement in
 •Archaea – bacteria,
usually living in extreme
environments
•Bacteria – bacteria
•Eukarya – fungi,
protists, plants &