Genetics

Cell
The basic building blocks that make up all organisms, providing things like structure, genetic
information, energy, and specialised functions. Unicellular organisms are only made up of one cell.
Cells contain specialised structure called organelles, which perform specific tasks.

Organelles

> Cytoplasm – A jelly-like fluid (cytosol) that surrounds organelles, protecting and holding
them in place.

> Cytoskeleton – A network of long fibres that provide structural framework, determining
cell shape and internal organisation, providing mechanical support that enables cells to
conduct functions.

> Endoplasmic Reticulum (ER) – Processes and transports molecules produces in the cell.

> Golgi Apparatus – Packages molecules processed by the ER to be transported.

> Lysosomes – Digest foreign bacteria and toxic substances, and recycle old cell components

> Mitochondria – Convert food to energy, and have separate DNA from the nucleus (can
undergo mitosis).

> Nucleus – Sends directions to the

cell to grow, mature, divide, or die,
and contains DNA. Surrounded by
the nuclear envelope, which is a
membrane that protects and
separates nucleus from the rest of
the cell.

> Plasma membrane – The outer

lining that encloses the cell,
allowing entry and exit of foreign
materials.

> Ribosomes – Processes genetic

information to create proteins.

Somatic Cells (Autosomal) – All cells in the body except

for the gametes. These are diploid, meaning they have
23 pairs of chromosomes (46 total), one set from each
parent.

Gametes – The sex cells (sperm and ova). These are

haploid, meaning they only have one set of
chromosomes (23 total), but the total number (46) is
restored when sperm and ova meet, forming a zygote.
DNA
Deoxyribonucleic acid (DNA) is the self-replicating hereditary material that contains the genetic code
of the organism. Mostly contained in the nucleus (some is in mitochondria), and is structured in a
double helix.

> Structure – Made up of interlocking molecules called nucleotides, which contain a

phosphate, sugar (deoxyribose) and a nitrogenous base.

> Bases – The 4 possible bases are adenine, thymine, guanine, and cytosine. A pairs with T,
and G pairs with C. These bases provide most of the information in DNA and are read by
enzymes.

> Amino Acids – Three bases code for a specific amino acid.

> Genes – Sections of DNA which contain complete messages are called genes and are made
from a sequence of amino acids. They determine traits and code for proteins.

Watson and Crick

James Watson and Francis Crick proposed the double helix model, which fits more information in a
compact shape. They were assisted by the X-ray crystallography photos given to them by Maurice
Wilkins and Rosalind Franklin.

Chromosomes

The thread-like bodies that contain genes, made from about 60% protein (called histones) and 40%
DNA. Somatic cells contain 46 chromosomes (2 sets of 23), while gametes contain 23 chromosomes
(1 set). Females have XX as their 23rd pair (sex chromosomes) and males have XY.

Note: Chromosomes only take on the distinctive X-shape when condensing after replicating, in
preparation for cell division.

> Chromatid – The thread-like ‘arm’ of the chromosome. The chromosome usually consists
of one chromatid, but after replication, there are two identical chromatids called ‘sister
chromatids’.

> Centromere – The constricted region of a chromosome that is usually near the centre.

> Replication – Before cell division, the DNA in a chromosome (in a thread-like form)
replicates, and then separates into two chromatids called ‘sister chromatids,’ which are
joined at the centromere. They condense in a distinctive X-shape, then decondense after cell
division.

> Homologous chromosomes – The

pairs of chromosomes that have similar
structural features and genes at the
same loci (location; singular: locus).

> Linked Genes – Genes that are

located close together in the
chromosome are more likely to be
inherited together.
 > Karyotype – An image that shows an individual’s collection of chromosomes. Used to
identify genetic abnormalities.

DNA Replication

New DNA needs to be created during the process of cell division.

1. The enzyme DNA Helicase ‘unzips’ the double helix, creating two strands of old DNA (leading
strand and lagging strand, which is in the opposite direction to the replication fork).
2. Each strand is then primed by DNA Primase, becoming a template.
3. DNA Polymerase attaches free-floating nitrogen bases to these templates.
4. DNA Ligase bonds everything together while fixing any breaks, as DNA in the lagging strand
is added in discontinuous chunks called ‘Okazaki fragments’ since the polymerase must work
backwards.

The new double helixes are identical to the old DNA, consisting of one ‘old’ and one ‘new’ strand.

Protein Synthesis

Proteins are polymers made from polypeptides, which are chains of amino acids, and are determined
by the sequence of bases in genetic coding. There are 20 amino acids in human proteins.

RNA is a molecule similar to DNA and codes genetic information into proteins. It is single-stranded,
the sugars are ribose instead of deoxyribose, and the nitrogen base Thymine is replaced with Uracil.

1. In the nucleus, the original DNA strand is transcribed into a messenger RNA (mRNA) strand
by RNA polymerase, which attaches the complementary bases and replaces T with U.
2. The mRNA is sent to a ribosome, where amino acids attach to the specific 3 bases that
correspond on the mRNA.
3. The result is a strand of amino acids (a polypeptide), with AUG (methionine) indicating the
start of the chain and UAA, UAG, and UGA indicating the end of the chain.
For example, the DNA strand TACGTACGTATT would become the mRNA strand AUG CAU GCA UAA,
which codes for methionine (start), histidine, alanine, and stop.

A codon chart shows all the different codons (base triplet) that code for different amino acids.

Mutation

Sometimes, mistakes are made during DNA replication or cell division, and can involve individual genes
or entire chromosomes.

Mutations in DNA sequence can be shown using the sample sentence, THE CAT ATE THE RAT

> Insertion (Frame shift mutation) – An extra letter is added into the sequence. E.g. X is
added into the sample sentence, TXH ECA TAT ETH ERA T

> Deletion (Frame shift mutation) – A letter is missing from the sequence. E.g. The letter H is
missing from the sample sentence, TEC ATA TET HER AT

> Substitution (Point mutation) – A letter is replaced in the sequence. E.g. The letter H is
replaced with O in the sample sentence, TOE CAT ATE THE RAT

Gene mutations are usually not harmful and may result in beneficial evolutions. However, mutations
can also cause genetic disorders and faulty proteins.

Genetic Diseases

These can be caused by individual gene mutations or mutated chromosomes. Karyotypes and
amniocenteses (singular: amniocentesis; sample of fetal cells) can be used to predict inherited
chromosomal disorders, which can result from issues in meiosis. Genetic disorders do not always
affect an individual’s ability to live a normal life.
 > Down Syndrome – Extra chromosome on the 21st pair (Trisomy chromosome), 47
chromosomes instead of 46. Characteristics may include things like some intellectual
disability, communication/hearing difficulties, flattened back of head, slanting eyelids, or
epicanthal folds.

> Klinefelter’s Syndrome – Sex-linked disorder that affects males with extra X chromosomes,
and characteristics may include reduced levels of testosterone, behavioural problems and
taller than average height. These may only become apparent during puberty.

> Other Syndromes – Cystic Fibrosis (mutated chromosome 7, recessive, affects lungs),
Edward’s syndrome (extra 18th chromosome, high fatalities), Trisomy 10 (extra 10th
chromosome, do not develop), Turner’s syndrome (females with only one X chromosome,
normal intelligence, short stature, webbed neck, etc.)

Cell Division
Cells divide to produce new cells and replace old ones, as cells need to remain small to work efficiently.
The parent cell divides into daughter cells.

Mitosis

A process that divides somatic cells into two genetically identical daughter cells, which can divide again
when required. Before mitosis, the chromosomes have already replicated and the proteins that will
form the mitotic spindle have been synthesized.

1. Prophase - Mitotic spindle starts to form (in cytoplasm), chromosomes start to condense,
and nucleolus is gone.
2. Prometaphase (Prophase) – Nuclear envelope (membrane) breaks down, chromosomes are
fully condensed, and the mitotic spindle starts to grab onto chromosomes with kinetochore
microtubules.
3. Metaphase – All chromosomes, which are a double structure consisting of duplicated
chromatids, line up along the equator of the cell.
4. Anaphase – The chromatid pairs separate into two identical chromosomes and are pulled to
the poles of the cell by the kinetochore microtubules, while the poles also widen.
5. Telophase - Chromosomes start to decondense, spindle disappears, nuclear membrane
forms, and the nucleolus reappears.
6. Cytokinesis – A contractile ring forms a cleavage furrow that separates the cell into two
daughter cells.
7. Interphase – The period of time when the cell is not dividing.
Meiosis

A process that produces haploid gametes (sperm and ova) for sexual reproduction. During
reproduction, the sperm and ova unite to restore the original number of chromosomes, with one set
from each parent.

The process is similar to mitosis, except it undergoes two rounds of division (meiosis I and meiosis II)
with only one round of DNA replication, resulting in 4 haploid daughter cells. In anaphase II, the
chromosomes are split at the centromeres, leaving unpaired chromosomes in the resulting haploid
cells.

> Recombination (Crossing-over) – During prophase I, homologous chromosomes form

tetrads (bivalents), where any pair of chromatid arms can cross over and exchange DNA
molecules/genes, which results in a combination of genes in the offspring.
Inheritance
Genetics is the study of how genetically controlled characteristics can be transferred
intergenerationally.

> Inheritable characteristics – Characteristics that are controlled by genes, passed on

through generations in DNA. E.g. Natural eye colour, natural hair colour, sex, ear shape

> Non-inheritable characteristics – Characteristics that are not controlled by genes,

determined by environmental factors. E.g. Accent, languages spoken, habits, hair style

Genetic Inheritance

Certain traits are passed from parent to offspring, with genetic variations occurring during the sexual
reproduction process. Traits can be dominant or recessive (notably in Mendelian traits), appearing in
homozygous or heterozygous genes.

> Mendelian traits – Traits that are passed down by dominant and recessive alleles of one
gene, and are controlled by a single locus (location on chromosome)

> Phenotype – The physical/visible characteristics of the trait. E.g. Black eyes, short arms.

> Genotype – The genetic information that corresponds to the phenotype, usually
represented by two letters. E.g. Bb, GG, ss, XY

> Homozygous genes – When both alleles inherited from the parents are matching, e.g. BB or
bb. People with homozygous genes are called homozygotes.

> Heterozygous genes – When the inherited alleles do not match, and the phenotype will
show the dominant trait over the recessive. E.g. Bb. People with heterozygous genes are called
heterozygotes.

> Dominant traits – The genetic variation that is ‘stronger’ than the recessive trait, overriding
it in the case of heterozygous genes. Represented by capital letters.

> Recessive traits – The genetic variation that is ‘weaker’ that the dominant trait, only showing
in the phenotype when the gene is recessive homozygous, e.g. bb. Represented by lowercase
letters.

> Alleles – The variant form of a gene, represented by letters that stand for the information
in a genotype. Dominant traits are represented by capital letters, and recessive traits are
represented by lowercase letters.

Gregor Mendel

Gregor Mendel was a scientist who discovered the existence of dominant and recessive traits,
conducting a series of pea plant experiments that explored the inheritance of characteristics like
colour, height, pod shape and colour, seed shape and colour, and flower position and colour.

He worked with pure breeding plants, where red-flowered pure breeding plants would produce only
red-flowered offspring, not white-flowered. This means that the genes of both parents were
homozygous for red flowers.
Punnett Squares

A Punnett square is a square diagram that assists in predicting the

genotypes resulting from cross breeding. Always put big letter first. It
can show the probability (percentage) of traits in potential offspring, e.g.
50% of the chicks will be blue (Bb), and 50% will be black (bb).

Other types of inheritance

Some traits do not follow the typical rules of dominant and recessive alleles, and are called non-
Mendelian traits.

> Codominance – When the phenotype of a heterozygous organism appears as a combination

of the traits, and both are visible at the same time. E.g. roan cows

> Incomplete dominance – When the phenotype of a heterozygous organism appears as a

blend of the traits, like an in-between. E.g. a red RR and white WW snapdragons will produce
a pink RW snapdragon.

> X-Linked Genes – Genes on the X chromosome are said to be X-linked, and have distinctive
inheritance patterns as males only have one X chromosome. X-linked human genetic
disorders are more common in males, as there is no other X gene to override it, e.g. colour
blindness.

> Polygenic Traits – A trait whose phenotype is influenced by more than one gene, e.g.
height, skin colour.

> Epistasis – A circumstance where the expression of one gene is influenced by the
expression of another independently inherited gene. E.g. a person could have brown or
black hair, but that gene will not be expressed if they also have a baldness gene.

Pedigrees

A chart that shows the occurrence of certain phenotypes from one generation to the next, like a family
tree.

> Circles represent females and squares represent males.

> Each row (identified by Roman numerals) is a generation, and each individual is identified by
an Arabic numeral (1,2,3).
> Shaded symbols represent individuals with the phenotype in question, and heterozygotes may
be indicated with a half-shaded symbol.
> Parents are connected by a horizontal line, and offspring are connected to their parents with a
vertical line.
Biotechnology
Biotechnology utilises cellular and biomolecular processes to develop technologies and products that
improve our lives and health of the planet. E.g. use of cultures in yoghurt production.

> Medical biotechnology – Use of cell materials to improve human health, such as in curing
disease. Used in vaccines and antibody production. E.g. Insulin is grown using transgenic
bacteria that have recombinant plasmids (circular DNA molecule in bacteria) with the human
insulin gene, which is then extracted once it multiplies enough.

> Agricultural biotechnology – Use of cell materials to

genetically modify plants and animals used in the
agricultural sector. This may involve identifying a
characteristic, finding the gene that causes it, then putting
that gene in another organism so it gains that characteristic.
Used in creating pest and herbicide resistant crops and
livestock with desirable traits. E.g. genes from salmon are
inserted into strawberries to make them more resistant to
frost.

> Other Applications – Nutrient supplementation for aid

resources (Golden rice is infused with beta-carotene),
abiotic stress resistance (drought, salinity, frost), industrial
biotechnology (beer and wine, washing detergents),
strength fibres (spider silk in bulletproof armour), biofuels
(using corn to produce combustible fuel), healthcare
(fertility treatments and IVF)
Genetic Engineering

The transfer of desirable genes from one organism the other (a transgenic organism). A piece of DNA
is taken from one chromosome and placed into another, coding for a different protein in the organism.
E.g. Bt. cotton (caterpillar resistant), Oncomouse (susceptible to cancer), xenotransplantation
(transgenic pigs with human genes for transplant organs), insulin production, anti-freeze strawberries.

> Advantages – Produces better and more desirable yields at a cheaper cost, quick and
efficient, assists in study of genetic diseases, reduces abiotic crop threats, can produce
treatments like insulin.

> Disadvantages – Tampers with natural cycle of life with unpredictable consequences, may
increase resistance of pests and weeds, does not solve global food distribution, specific
genes can be monetised.

Cloning

The process of creating another individual organism with the exact

same genes as the original organism. It involves transferring a
somatic cell into a donor egg, which is then developed and placed
into a surrogate mother. E.g. Dolly the sheep.

> Advantages – Consistent and desirable traits can be

reproduced, shorter duration than selective breeding, can
preserve endangered/extinct species.

> Disadvantages – Reduces genetic variation (increases risk

of disease), fairly expensive, reduces natural rate of
reproduction, interrupts natural ecosystem cycle, shorter
lifespan.

Genetically Modified Foods

Foods that have been deliberately genetically altered with genes from other species to create more
desirable and/or useful traits.

> Advantages – Produces more desirable qualities, stronger resistance to threats, easier to
cultivate, increases yields, more resource efficient.

> Disadvantages – Can increase resilience of pests and weeds (threatens natural ecosystem),
may result in dangerous unintended consequences, may contaminate other organisms if
escaped, chemicals will be used more carelessly.