Definitions

Unit 1.1: Until 1.3:

Chromosomes: A threadlike structure of nucleic acids and protein Alleles: Different forms of the same gene located at the same point
found in the nucleus of most living cells, carrying the genetic in a chromosome.
information in genes. Everyone has 46 chromosomes; 23 from each
parent. Dominant allele: The allele for a trait that is being observed - the
outward appearance of an individual or a disease shown DD or Dd
Deoxyribonucleic acid - DNA: DNA is a molecule that contains the in a punnet square
biological instructions that make each species unique.
Genotype: genetic information carried by an individual; their genes
Gene: A part of DNA that carries certain traits given from a parent
to offspring determining characteristics. Heterozygous: Having two different alleles on homologous
chromosomes
Traits: A characteristic which typically belongs to one inherited from
DNA/offsprings Homozygous: Having two identical alleles on homologous
chromosomes

Unit 1.2: Phenotype: observable characteristics of an individual - the

genotype being expressed
Autosomes: A chromosome that isn’t a sex-chromosome
Recessive allele: The allele for a trait that remains hidden in the
Gametes: Mature sex cells made for reproduction eg. Ova, sperm, heterozygous condition
egg
Sex-Linked genes: The genes present on the sex chromosomes
Homologous chromosomes: chromosomes with specific

Meiosis: The type of cell division that produces gametes with half No unit number:
the number of chromosomes of the parent cell. It creates four cells.
Asexual reproduction: Where only one parent is required to
Mitosis: The type of cell division that produces the majority of your produce an offspring; advantages include not having to find a mat
cells but NOT sex cells. This process creates two daughter cells and a disadvantage is the offspring is identical to parent
identical to the parent cell.
Nucleus: the structure in a cell that contains the chromosomes.
Sex chromosomes: The chromosomes that determine the sex of
an individual; in humans, they are the X and Y chromosomes. Sexual reproduction: Where two parents are required to produce
Females have two X chromosomes in their cells and males have X an offspring reproduction; advantages include more variations in the
and Y offspring and disadvantages may be finding a mate

Inheritance: Pedigree chart:

● During reproduction, the transmission of heritable A pedigree chart is a diagram, like family trees that show the
characteristics from one generation to the next involves appearance of traits or diseases for a particular gene or organism
DNA and genes. Genetic information is transferred as and where it was inherited from.
genes in the DNA of chromosomes. Key points:
● DNA is a double helix in the shape and consists of ➢ How traits or diseases are transmitted
repeating units known as nucleotides. Each nucleotide is ➢ Predictions of the probabilities of an affected child
made up of a pentose sugar, a base pair (of either G, C, T, ➢ If the trait is dominant or recessive
or A; which stand for the main bases) and a phosphate
Pedigree Diagram:
Genes/Alleles and Punnet squares:
Genes and alleles determine an individual's characteristics. Letters
are used to represent forms of genes. Capital letters are used for
dominant alleles and lowercase letters are used for recessive
alleles. For example, deciding if one has brown hair B would be the
dominant allele and b would be the recessive allele. To determine
the probability of offspring both parents' genotypes (set of alleles)
are put into a punnet square as shown below in the punnet square
diagram. Each person could have BB(homozygous dominant), Bb
(heterozygous) or bb(homozygous recessive). Punnet squares are
tables that illustrate dominant and recessive genes. It displays the
possible results for offspring

Punnet square diagram:

25% chance of homozygous

dominant (BB)

50% chance of heterozygous

(Bb)

25% chance of homozygous

recessive (bb)
Watson-Crick model of DNA: Meiosis Phases:

The Watson-Ctick model of DNA explains a form of attraction known Prophase 1: homologous chromosomes pair up and for tetrad
as a hydrogen bond connects each base from one DNA strand to
exactly one base from the other DNA strand. Metaphase 1: spindle fibres move homologous chromosomes to
DNA is made up of smaller molecules known as nucleotides. opposite sides

Nucleotides: Anaphase 1: nuclear membrane reforms, cytoplasm divided, 4

● Made up of three parts: phosphate group, deoxyribose daughter cells formed
sugar and one of the nitrogen-rich bases
● The nucleotides are organised in such a way that the DNA Telophase 1 and Cytokinesis: Chromosomes line up along
is a double helix - the shape of a twisted rope ladder as equator, not in homologous pairs
shown to the right
● The nitrogen-rich bases are adenine (A), thymine (T), Prophase 2: Crossing-over occurs
guanine (G) and cytosine (C)
● On the ladder A-T are pair and C-G are the second pair, Metaphase 2: Chromatids separate
these pairs are ‘rungs’
Anaphase 2: Homologs line up alone equator
Meiosis:
Telophase 2 and Cytokineis: Cytoplasm divides, 2 daughter cells
● Begins with a diploid cell are formed
● Only produces gametes: genetically different haploid cells
● Has two cell division stages: Meiosis 1 and Meiosis 2
● Meiosis 1 produces two haploid cells each containing one In-vitro fertilisation (IVF)
chromosome from the homologous pairs
● Meiosis 2 separates sisters chromatids to produce 4 IVF is the scientific process of fertilising eggs outside the human
haploid gametes body and then placing the embryo back into the woman's uterus or
● This process is required to produce egg and sperm cells a surrogate's uterus. IVF is a process used for couples who are
for sexual reproduction. naturally unable to conceive a child or are infertile.
● Meiosis reduces the number of chromosomes in the parent
cell by half Benefits of IVF include:
❖ Infertile couples can produce their own biological child
Meiosis diagram: ❖ Increases chances of a healthy baby
❖ Anyone can use IVF; single mothers may choose to use
sperm donations
❖ Increases chances of contraception

Limitations of IVF include:

❖ IVF can become very expensive, especially for those with
failing IVF treatment
❖ Many risks such as too many children, miscarriage, failed
treatment etc.

Bibliography:

“Chapter 1” (no date) in Pearson Science NEW SOUTH WALES 10.

Editors, B.D. (2020) Meiosis - definition, stages, function and

purpose, Biology Dictionary. Available at:
https://biologydictionary.net/meiosis/ (Accessed: March 16, 2023).

Ncfmc (2020) 7 ways that IVF benefits infertile couples - NCFMC,

Northern California Fertility Medical Center - Sacramento IVF.
Available at:
https://ncfmc.com/7-ways-that-ivf-benefits-infertile-couples/
(Accessed: March 16, 2023).

Pedigree (no date) Genome.gov. Available at:

https://www.genome.gov/genetics-glossary/Pedigree (Accessed:
March 16, 2023).