HEREDITY

How does the human immune system respond to exposure to a pathogen?

Explain the Reproduction is a fundamental evolutionary process ensuring the continuity of life.
mechanisms of The reproductive success of an organism is determined by its ability to produce fertile offspring that survive to reproductive maturity
reproduction that and produce offspring of their own, in this way replacing the parent.
ensure the
continuity of a
- A species refers to a group of closely related organisms which are very similar to each other and can interbreed to give fertile
species, by
analysing sexual offspring.
and asexual
methods of
reproduction in a Internal Fertilisation External Fertilisation
variety of
organisms, Definition The union of male and female gametes occurring inside The union of male and female gametes occurring
including but not
of the body. outside of the body.
limited to:
Advantages · Increased chance of successful fertilisation: Internal · Large number of offspring: External fertilisation allows for
fertilisation involves the direct transfer of sperm to the the production of a large number of offspring in a single
– animals:
female's reproductive tract, which increases the likelihood of reproductive event.
advantages of
successful fertilisation. · Reduced energy investment: External fertilisation requires
external and
· Greater control over offspring development: Internal less energy investment from the parents since there is no
internal
fertilisation allows for greater control over offspring need for courtship and mating behaviours.
fertilisation
development since fertilisation occurs within the female's · Widespread distribution: External fertilisation enables
reproductive tract, where the conditions can be more organisms to reproduce over a wider area since the release of
carefully regulated. gametes can occur in open water or other environments.
· Protection of developing embryos: Internal fertilisation
provides protection for developing embryos since they are
kept within the female's reproductive tract, where they can
be shielded from predators, disease and environmental
hazards.

Disadvantages · High energy investment: Internal fertilisation requires a · Reduced chance of successful fertilisation: External
high energy investment from both male and female organisms fertilisation has a lower chance of successful fertilisation
due to the need for courtship and mating behaviours. since it relies on chance encounters between gametes in the
· Limited reproductive rate: Internal fertilisation typically environment.
results in fewer offspring per reproductive event compared to · Limited control over offspring development: External
external fertilisation. fertilisation provides limited control over offspring
· Risk of sexually transmitted infections: Internal development since the fertilisation occurs outside the body
fertilisation increases the risk of sexually transmitted and the developing embryos are exposed to environmental
infections due to the direct transfer of sperm to the female's hazards.
reproductive tract.
· Increased vulnerability to predators: External fertilisation
 can increase the vulnerability of developing embryos to
predators and other environmental hazards.

Summary of Internal fertilisation is advantageous for organisms that require greater control over offspring development and
Both protection, while external fertilisation is advantageous for organisms that require a larger number of offspring and
wider distribution. The optimal method of fertilisation depends on the specific needs of the organism and the
environmental conditions.

Examples in · Mammals: Almost all mammals reproduce through internal (LESS COMMON)
Terrestrial fertilisation. Male mammals transfer sperm directly to the · Some species of amphibians, such as salamanders, newts,
Environments female's reproductive tract during copulation. Examples and some frogs, reproduce through external fertilisation on
include humans, dogs, cats, elephants, and lions. land. The male deposits sperm on the eggs as they are laid by
the female in a moist environment.
(On Land)
· Reptiles: Most reptiles, including snakes, lizards, and
turtles, reproduce through internal fertilisation. Male reptiles · Some species of reptiles, such as some species of lizards
transfer sperm to the female's cloaca during copulation. and snakes

· Insects: Many insects, such as bees, ants, and butterflies, · Some invertebrates, such as some species of insects,
reproduce through internal fertilisation. Male insects transfer spiders, and scorpions, may also reproduce through external
sperm to the female's reproductive tract during copulation. fertilisation on land. The male deposits sperm onto the eggs,
which are usually laid in a protected, moist environment.

Examples in (LESS COMMON) · Fish: Most fish reproduce through external fertilisation,
Aquatic · Sharks and rays: The male shark or ray uses modified where the female releases eggs and the male releases sperm
Environments pelvic fins called claspers to transfer sperm into the female's into the water. The sperm and eggs then combine in the
reproductive tract. water, and the resulting fertilised eggs develop outside the
parents' bodies. Examples include salmon, trout, and herring.
(In Water)
· Some species of fish, such as seahorses, pipefish, and some
species of sharks, reproduce through internal fertilisation. · Amphibians: Many amphibians, such as frogs and toads,
Male transfers sperm into the female's body through a special reproduce through external fertilisation. The male releases
structure called a gonopodium or a modified fin. sperm into the eggs after they are laid by the female in water
or wet environments.
· Some aquatic invertebrates, such as some species of
molluscs and crustaceans, reproduce through internal · Invertebrates: Many aquatic invertebrates, such as sea
fertilisation. The male deposits sperm directly into the urchins, starfish, and jellyfish, reproduce through external
female's reproductive tract using specialised structures called fertilisation. The release of gametes into the water allows for
spermatophores. Examples include some species of squid, fertilisation to occur outside the body.
octopuses, and shrimp.
– plants: asexual
and sexual
reproduction

Sexual Reproduction Asexual Reproduction

Definition Reproduction involving two parents, who produce Reproduction involving only one parent and no sex cells
offspring that contain a mix of the parents’ genes and or gametes, resulting in offspring that are genetically
therefore differ from each other and the parents. identical to each other and the parent.

Advantages · Increased genetic diversity: Sexual reproduction allows for · Rapid Reproduction: Asexual reproduction allows for the
the mixing of genetic material, resulting in offspring with new rapid production of offspring without the need for a mate or
combinations of genes that can provide an adaptive the time and energy investment required for courtship and
advantage in changing or unpredictable environments. mating.
· Increased adaptation potential: Sexual reproduction · Genetic stability: Since asexual reproduction does not
increases the adaptation potential of the organism by involve the mixing of genetic material, the offspring are
introducing new genetic variation that can be selected for or genetically identical to the parent, which can be
against by natural selection. advantageous in stable and predictable environments.
· Repair of damaged DNA: Sexual reproduction allows for the · Efficient use of resources: Asexual reproduction enables
repair of damaged DNA through recombination and repair organisms to reproduce without the need to produce gametes
mechanisms. or allocate resources for courtship, mating, or offspring
rearing.

Disadvantages · Demands a greater expenditure of time and energy: · Lack of genetic diversity: Since asexual reproduction does
sexual reproduction requires the time and energy investment not involve the mixing of genetic material, offspring are
for courtship, mating, and offspring rearing, which can be a genetically identical to the parent, which can be
disadvantage in resource-limited or unpredictable disadvantageous in changing or unpredictable environments.
environments. · Accumulation of deleterious mutations: Asexual
· Reduced reproductive rate: Sexual reproduction typically reproduction can lead to the accumulation of deleterious
results in fewer offspring per reproductive event than asexual mutations in the offspring due to the lack of genetic
 reproduction. diversity.
· Risk of sexually transmitted infections: Sexual · Reduced adaptation potential: Asexual reproduction limits
reproduction can increase the risk of sexually transmitted the adaptation potential of the organism since there is no
infections, which can have detrimental effects on the fitness genetic recombination and the offspring are limited to the
and survival of the organism. genetic variation present in the parent.

Summary of Asexual reproduction is advantageous in stable and predictable environments, while sexual reproduction is
Both advantageous in changing or unpredictable environments. Both modes of reproduction have their advantages and
disadvantages, and the optimal mode of reproduction depends on the environmental conditions and the specific
needs of the organism.

Pollination
Features/structures of plants that use this method Plant Example/s
Method

Wind Plants that rely on wind for pollination typically have small, inconspicuous
flowers that lack bright colours or fragrances. These flowers are often - Grasses (e.g. wheat, corn, rice)
arranged in catkins or spikes that can sway in the wind, allowing the - Trees (e.g. oak, birch, pine)
pollen to be carried away by the breeze. Examples of wind-pollinated - Weeds (e.g. ragweed, dandelion)
plants include grasses, many trees (such as oak, birch, and pine), and
some weeds.

Insect Plants that attract insect pollinators typically have showy, brightly
coloured flowers with nectar and/or pollen rewards. The flowers often - Wildflowers (e.g. coneflower, bee
have a complex shape that allows insects to land and move around while balm, milkweed)
collecting nectar and transferring pollen. Some plants have co-evolved - Fruit trees (e.g. apple, cherry,
with specific types of insects, and their flowers have adapted to fit the peach)
size and shape of their pollinators. Examples of insect-pollinated plants - Vegetable crops (e.g. tomato,
include many wildflowers (such as coneflowers, bee balm, and milkweed), squash, cucumber)
fruit trees (such as apple, cherry, and peach), and many vegetable crops
(such as tomato, squash, and cucumber).

Small Plants that rely on small mammals for pollination typically have small,
Mammal inconspicuous flowers that are often nocturnal or produce a strong odour. - Agave (e.g. tequila agave)
These flowers often produce copious amounts of nectar and are adapted - Cactus (e.g. saguaro, prickly pear)
to be accessed by animals with long tongues, such as bats or bushbabies. - Trees (e.g. baobab, kapok)
Examples of small mammal-pollinated plants include agave, cactus, and
some species of trees.

Bird Plants that attract bird pollinators often have brightly coloured, tubular
 flowers with copious amounts of nectar. The flowers are often adapted to - Trumpet vine (Campsis radicans)
be accessed by birds with long beaks, and some even have a perch for the - Bee balm (Monarda didyma)
birds to rest on while they feed. Many bird-pollinated plants are also - Salvia (Salvia spp.)
adapted to be pollinated by specific bird species, with flowers that match - Red hot poker (Kniphofia spp.)
the bird's beak length and colour preferences. Examples of bird-pollinated - Bottlebrush (Callistemon spp.)
plants include hummingbird favourites like trumpet vine, bee balm, and
salvia, as well as many species of trees and shrubs.

- fungi: budding, Reproduction in Fungi - asexual

spores

Budding · Parent Protozoan produces a bud which is a daughter nucleus created based on a replica of DNA
· Then there is nucleus division and separation of parent’s cytoplasm
· Over time, the daughter nucleus undergoes further cell division via mitosis to grow and mature, which results
in protists with identical DNA.
- Occurs in single-celled organisms and simple multicellular organisms (eg. hydra and yeast)

Sporulation or Spores are reproductive cells able to develop into a new

Spores organism.

- Sporulation occurs when the cells of an organism produce

one or more spores inside its cell wall, which are
eventually released and carried into a favourable
environment to grow into an adult organism.

Fragmentation Organism is split into two fragments which mature individually and are identical to the parent.

– bacteria: binary Reproduction in Bacteria - asexual

fission

Binary Fission Definition: An asexual method where the cells divide into two identical daughter cells by mitosis and cytokinesis
Examples: Binary, Paramecium (mostly prokaryotes)

· Cells increase in size until they divide into two new cells
· Firstly, DNA of bacteria divides into two, then the cell splits into two daughter cells with identical DNA to the
parent cell.

Flow chart
– protists: binary Reproduction in Protists - asexual
fission, budding

Binary Fission Single protist replicates its DNA, then divides itself into two organisms (cytokenisis).

Budding · Parent Protozoan produces a bud which is a daughter nucleus created based on a replica of DNA
· Then there is nucleus division and separation of parent’s cytoplasm
· Over time, the daughter nucleus undergoes further cell division via mitosis to grow and mature, which results
in protists with identical DNA.
- Occurs in single-celled organisms and simple multicellular organisms (eg. hydra and yeast)

Analyse the
features of
fertilisation, Analyse the Features of
implantation and
hormonal control Fertilisation Fertilisation is the process by which the sperm and egg combine to
of pregnancy and form a zygote, which develops into an embryo.
birth in
mammals · Each parent contributes a haploid gamete to the offspring (haploid
cells have half the regular number of chromosomes, so when a haploid
sperm cell combines with a haploid egg cell the genetic material
combines creating a diploid cell, which contains a full set of
chromosomes)
· Requires gametes to combine and form zygote

· Gametogenesis (the gamete formation process) involves:

● Spermatogenesis (production of sperm)
 ● Oogenesis (matured egg cells)

· Gametes must be from the same species

Implantation Stages in the ovarian and menstrual cycles

· Implantation gives the blastocyst access to nutrients and to develop
into an embryo
· After fertilisation, the zygote grows by cell division into a clump of
cells called a blastocyst, which contains an inner cell mass that forms
the embryo.
· The trophoblast are the outer cells of the of the blastocyst, and they
initiate the formation of the placenta
· The blastocyst then attaches to the endometrium, this is called
implantation.
· Implantation involves the trophoblast cells of the blastocyst
secreting enzymes that break down some of the endometrial cells,
allowing it to enter the lining
· Once the blastocyst has been implanted the embryo release
hormones, such as human chorionic gonadotropin (HCG) which sustains
the corpus luteum, allowing it to continue secreting progesterone and
oestrogen
● These two hormones are essential for maintaining the uterus
lining to support embryonic development
· Without HCG, the corpus luteum breaks down, which triggers the
endometrium to shed, commonly referred to as a period.

Hormonal First trimester of pregnancy

Control · The embryonic hormone HCG rises rapidly, which maintains the
corpus luteum and ensures the uterus lining remains receptive
· The progesterone and oestrogen secreted by the corpus luteum
interact with the hypothalamus and anterior pituitary gland, causing a
decrease in GnRH, FSH and LH, which prevents ovulation
(menstruation) occurring.
· High levels of progesterone stimulate changes to the mother body
including: enlargement to the uterus, formation of a mucus plug to seal
the cervix, growth of the maternal parts of the placenta, and breast
growth.

Second trimester
 · Production of HCG declines and the corpus luteum deteriorates
· Placenta takes over the role of producing oestrogen and
progesterone, which are produced in high levels in order to maintain
the pregnancy

Third trimester
· Increased oestrogen is released which induces receptors to form on
the uterus wall that can bind with the hormone oxytocin, which is
critical to triggering and maintaining labour.
· Oxytocin causes muscular contractions of the uterus, which push the
baby towards the cervix and vaginal opening.

Hormonal
Control of - Progesterone and oestrogen drop to maintain endometrium lining
Birth · Pressure from baby’s head stimulates production of the hormone
oxytocin (stimulates contractions and pressure)
· When the cervix is 10cm wide, oxytocin and adrenaline hormones
start a final series of muscular contractions.
· Once the baby is delivered, the uterine contractions are controlled
by oxytocin until the placenta is pushed out and the uterus shrinks to
normal size.
 Generalised Steps of Fertilisation and Implantation
(Placental/Marsupial Mammals)
1. The male and female copulate (have sexual intercourse) – this
involves the male penis being inserted into the female vagina
2. A muscular contraction (ejaculation) causes semen from the
male to move into the female vagina. Semen contains large
numbers of sperm, plus nutrients and fluids.
3. The sperm cells travel through the female reproductive tract –
passing through the cervix, into the uterus and into an oviduct
(fallopian tube).
4. A single sperm cell fertilises each available egg (0va), resulting
in one or more zygotes (fertilised ova). Different species release
different numbers of eggs.
5. As a zygote travels down the oviduct to the uterus, it begins to
grow through cell division (mitosis). It begins to develop into an
embryo.

Evaluate the The impact of the scientific knowledge of inheritance has enabled people to develop organisms with desirable traits such as producing
impact of increased quantities of produce and higher yield.
scientific
knowledge on the
manipulation of Selective Breeding Humans selectively breed organisms to develop desirable characteristics by choosing which organisms will
plant and animal sexually reproduce to have offspring. Advantage: the production of animals with desirable traits.
reproduction
in agriculture Disadvantage: decreases the gene pool creating less genetic diversity.

Artificial The process of collecting sperm cells from a male animal with desirable characteristics and inserting it into
Insemination the uterus of a female, impregnating them, and producing large numbers of offspring with desirable
characteristics.

Advantages: improving the cross breeding of males and females with desirable traits.
Disadvantages: requires expensive equipment and well-trained operations.

Artificial Taking pollen from the anther of one selected flower and dusting it onto the stigma of another selected
Pollination parent. This gives control over which plants become parents of the next generation

Cloning Type of asexual reproduction that creates offspring that are genetically identical to the parent. Plant
cloning: a section of the mother plant containing a stem cell is cut and planted in the same environment
which develops the same characteristics. Animal cloning: genetic material from an unfertilised egg is
removed and replaced with complete genetic material from an animal which is to be cloned, the egg is then
 implanted into the mother who gives birth to a clone.

Reproductive What the process involves Example Scientific knowledge for the
technology technology to work
The process of collecting sperm cells from a
Artificial male animal with desirable characteristics and ● Used in sheep, cattle ● Tracking female menstrual
Insemination inserting it into the uterus of a female, and pigs cycle, hormonal regulation
impregnating them, and producing large ● By crossing Male → timing
numbers of offspring with desirable Friesian (where Friesian ● How to preserve sperm
characteristics.
cows produce large ● How to use technology
· Injection of male semen into the quantities of milk) ● Basic understanding of
vagina or cervix of a female without sexual variety with female male and female
intercourse jersey cow (known for reproductive anatomy,
creamy milk) = offspring organs and gametes
● Sperm collected from stud male & can produce large amounts ● phenotypic traits are
be stored/frozen/sent anywhere of creamy milk hereditary
● Desired features = more beef, higher ● sheep with finer fool ● sexual reproduction –
milk production, milk with higher butter and pigs with more lean hormonal control,
fate, sheep with finer wool or pigs with meat fertilisation, pregnancy
leader meat ● Belgium blue cow ● technology to collect +
inject semen
Advantages:

● Male may provide sperm for many

females without leaving paddock
● Reduce danger of injury→ particularly in
females as males are more stronger and
dominant
● Increased breeding life of male
● Can increase number of endangered
species
 Disadvantages:

● Relies on ‘trial and error’

● Potential for over-exaggerated features
● Expensive specialised equipment and
well-trained operations
● Important to maintain detailed
pedigrees of these animals as less
favourable games can be passed on at
the same time
● Risk of interbreeding if monitoring is not
controlled and regulated
● Overuse of sperm from one particular
breeding line can reduce genetic
diversity

Artificial Taking pollen from one plant’s anther with ● Pears grown in China ● Reproduction system
pollination desired characteristics and placing it on to the have been hand- and parts in plants
stigma of another selected parent pollinated since regional ● Plant structure +
bees were wiped out by pollination methods
● Used to produce a wide range of fruits, pesticides in the 1980’s ● Technology used to
vegetables and cereal crops transfer pollen across
● Desired features = higher yield, larger Wheat that is dry resistant plant stigmas
fruit, disease/drought/frost resistance ● Where gametes are
produced
Advantages: ● Traits are inheritable
● Plants can be bred in climates they are
not usually suited to in controlled
conditions
● Able to assist in production of resistant
plants for countries with high incidence
of drought, etc.
 Disadvantages:

● Overuse can lead to entire areas

becoming susceptible to a specific pest
e.g. irish potato famine - caused by a
fungal disease
● Plants gradually lose their vigour → lose
ability to adapt to changing conditions
● Overcrowding

Lack of nutrients available for all individuals

Cloning Type of asexual reproduction that creates - Cutting + grafting

offspring that are genetically identical to the techniques
parent.
· budding
· grafting
Plant cloning: a section of the mother plant
· stem cutting
containing a stem cell is cut and planted in the · growth of plant tissue
same environment which develops the same in a nutrient media
characteristics.
- Tissue culture
Animal cloning: genetic material from an techniques
unfertilised egg is removed and replaced with
complete genetic material from an animal
which is to be cloned, the egg is then implanted
into the mother who gives birth to a clone.

● The creation of identical genetic copies

of an original organism
● Common among plant population, but
not among animals
● Reproductive cloning - to produce a
whole offspring to survive
● Therapeutic cloning - creation of
embryos to produce human stem cells to
treat disease . The embryo is killed in
 the process

Advantages:

● Improved breeds because genetics

copies are made with desired
characteristics
● Organisms that are difficult tor slow to breed
normally can be reproduced quickly in
laboratory → doesn't have to be in same
location

Disadvantages:

● Smaller gene pools → specifically picking

genes desired
● Some allele that may be of future benefit may
be lost → natural selection
● Problems with interbreeding - with
recessive genes showing traits therefore
loss of genetic variation
● Certain characteristics will dominate

Ethical issues to consider (stem cell research)

Humans selectively breed organisms to develop Corn: to enhance its yield,
Selective desirable characteristics by choosing which taste, nutritional content, and · Genotypes &
breeding organisms will sexually reproduce to have resistance to pests and diseases phenotypes
offspring.
Cows: dairy cattle breeding- · Animal or plant
Advantages: enhancing traits related to milk anatomy
· The production of animals with production, such as milk yield,
desirable traits e.g. disease milk quality, and lactation · Animal or plant
resistance, higher milk production, period.
reproductive cycle
increased crop yields, adaptation to
environmental change, improved
product quality · Tools and
· Time efficient technologies used

Disadvantages: · Technique/process of
 · Decreases the gene pool creating
less genetic diversity union of male and female
· Increased chance of inbreeding individuals
and genetic disorders
· Loss of natural adaptation · Ethical
· Ethical concerns: animal welfare considerations: proper
(animal handling, semen handling
handling
etc)
· Time-consuming
· Resource-intensive

CELL REPLICATION
How important is it for genetic material to be replicated exactly?
model the The DNA molecule is made of two strands of nucleotides, which consist of
processes involved phosphate, sugar, and nitrogenous bases. There are 4 types of nitrogenous
in cell replication, bases, each named after the base that it carries: Adenine, Thymine,
including but not Guanine, and Cytosine.
limited to:
The two strands are held together by weak hydrogen bonds in the centre,
which forms a ‘ladder’ in spirals known as a ‘double helix’ and allows
chains of DNA to be unzipped in replication. DNA is found in chromosomes
inside eukaryotic cells (chromosomes contain DNA and proteins)

– mitosis and Mitosis is the process of cell division in which a single cell divides into two identical daughter cells.
meiosis Meiosis is a type of cell division that halves the chromosome number and gives rise to gametes that transmit genetic material from one
generation to the next during sexual reproduction.

Characteristic Mitosis Meiosis

Importance of process in Mitosis is important for growth, development, Meiosis is important for sexual reproduction and
the life of a cell organism and repair of tissues in the body. genetic diversity.

Type of reproduction Asexual reproduction Sexual reproduction

Types of cells that undergo Most somatic (non-reproductive) cells in the body Germ cells (sperm and egg cells)
the process (areas of the
body)

Types of cells produced by Two identical daughter cells Four unique daughter cells
the process
(identical or unique)

Number of nuclear divisions One Two

Number of daughter cells Two Four

produced at the end of the
process

Daughter cells diploid or Diploid (2n) number of chromosomes Haploid (n) number of chromosomes
haploid number of
chromosomes

Number of chromosomes in The same number of chromosomes as the parent Half the number of chromosomes as the parent
daughter cells cell cell

Mitosis
Mitosis is a process of cell division in which a single cell divides into two identical daughter cells. It is a fundamental process for
growth, repair, and asexual reproduction in organisms.
Prophase The chromosomes condense to become visible, the nuclear envelope breaks
down, and spindle fibres form. Centrosomes move towards the opposite
ends of the poles

Metaphase The microtubules of the mitotic spindle extend from the centrosomes to
the chromosomes. These assist the chromosomes in lining up in the middle
of the cell.

Anaphase Each pair of sister chromatids are separated at the centromere. Each
identical copy of a chromatin (now called a chromosome) moves to
opposing sides of the cell.

Telophase The cell prepares to split into two by forming a nuclear membrane
(cleavage furrow) around each identical set of chromosomes.

Cytokinesis occurs, this divides the cytoplasm and results in the formation
of two genetically identical daughter cells.
Meiosis
Meiosis is a process of cell division that produces gametes (sex cells) in sexually reproducing organisms. It involves two consecutive
divisions, resulting in the formation of four genetically diverse haploid cells from a single diploid cell.

Meiosis I

Interphase

Prophase I · Chromosomes condense, becoming visible.

· Homologous chromosomes join together (synapsis)
· Crossing-over occurs, where genetic material is exchanged between non-sister chromatids of homologous
chromosomes making recombinant chromosomes.

Metaphase I · Paired homologous chromosomes align along the equatorial plane (equator/middle) of the cell.
· Random segregation occurs, meaning that each pair of homologous chromosomes can orient themselves
independently of other pairs.
· Independent assortment occurs, where the orientation of homologous pairs is randomised along the equator of
the cell- move randomly to separate poles.

Anaphase I · Homologous chromosome pairs separate and move towards opposite poles of the cell by the spindle fibres.
→ Maternal chromosomes and paternal chromosomes are distributed randomly among the daughter cells.

Telophase I · Chromosomes reach the poles of the cell.

· Chromosomes are enclosed within newly formed nuclei
· The nuclear envelope dissolves and the chromosomes begin to decompose into chromatin. Cytokinesis completes
the division of the cell into two unique daughter cells.

Meiosis II

Prophase II · Chromosomes condense again if they had decondensed during telophase I.

· Spindle fibres form again- centrosomes organise microtubules to form the spindle apparatus. The spindle fibres,
composed of microtubules, extend from the centrosomes and attach to the chromosomes' kinetochores within the
centromere.

Metaphase II · Chromosomes align individually along the equatorial of both daughter cells.

Anaphase II · Sister chromatids separate and migrate towards opposite poles of the cell.
 Telophase II · Chromosomes reach the poles of each daughter cell.
· Cytokinesis occurs, cleavage furrow forms and divides, splitting the cytoplasm, resulting in the formation of four
unique haploid daughter cells (gametes).

– DNA replication DNA replication is the process by which DNA molecules are copied or duplicated.
using the Watson
and Crick DNA The Watson and Crick DNA model provides a structural basis for understanding the mechanism of DNA
model, including replication. The model consists of two strands of nucleotides that are held together by hydrogen bonds
nucleotide between complementary base pairs. The four nucleotides that make up DNA are adenine (A), thymine
composition, (T), cytosine (C), and guanine (G).
pairing and
bonding
assess the effect Cell replication is a fundamental process for the growth and development of living organisms, and it plays a crucial role in the
of the cell continuity of species. During cell replication, a parent cell divides into two or more daughter cells that are genetically identical to the
replication parent cell.
processes on the
continuity of
The effect of cell replication on the continuity of species is twofold. On the one hand, cell replication ensures that the genetic
species
material of a species is passed down from generation to generation, maintaining the genetic continuity of the species. Each daughter
cell produced during cell replication contains the same genetic information as the parent cell, ensuring that the genetic makeup of the
species remains relatively stable over time.

On the other hand, cell replication can also introduce genetic variation into a species. During replication, errors can occur in the
process of DNA replication or during cell division. These errors can result in mutations or changes in the genetic code of the daughter
cells. Over time, these mutations can accumulate, leading to genetic diversity within a species. Genetic diversity is important for the
survival of a species as it allows for adaptation to changing environments and selective pressures.

In summary, cell replication plays a critical role in maintaining the genetic continuity of a species while also allowing for genetic
diversity and adaptation to changing environments. Without cell replication, the continuity of species would not be possible, and the
survival of a species in changing environments would be severely compromised.
DNA AND POLYPEPTIDE SYNTHESIS
Why is polypeptide synthesis important?
Construct Polypeptide synthesis is the process by which amino acids are linked together through peptide bonds to form a polypeptide chain.
appropriate Polypeptides are long chains of amino acids that are the building blocks of proteins.
representations to The sequence of amino acids in a polypeptide determines the unique three-dimensional structure and function of the protein it forms.
model and
compare the
forms in which Prokaryotes Eukaryotes
DNA exists in
eukaryotes and Location of DNA Nucleoid (in the cytoplasm) Nucleus, mitochondria, chloroplast
prokaryotes
Shape of DNA Circular chromosome Linear chromosomes in nucleus and can be circular
in chloroplasts and mitochondria

Protein Synthesis Transcription and translation occur simultaneously Transcription (occurs in nucleus) and translation
in cytoplasm (occurs in cytoplasm) does not occur
simultaneously

Alleles per Gene 1 allele per gene 2 alleles per gene

Presence of Plasmids Contains plasmids (smaller rings of DNA) Usually not, but some may contain plasmids
(eg. fungi)

Model the process Transcription and Translation

of polypeptide
synthesis,
including: Transcription Transcription is when a gene’s DNA sequence is copied to make an RNA molecule.
● Process by which genetic information is transferred from a double helical DNA to a single stranded mRNA.
– transcription and ● It is the first step of gene expression.
translation ● Important because transcription produces mRNA which is necessary for carrying out translation, where proteins are
produced that are required for the functioning of living organisms.

The whole process of transcription occurs in 3 stages. They are:

Initiation ● Similar to replication, the DNA double helix unwinds forming a transcription bubble.
● The hydrogen bonds between the nucleotide base pairs of the two antiparallel strands are broken creating two
separated strands, a template strand (3’→5’) and a non-template strand (5’→3’).
● There is a particular sequence in the uncoiled DNA which indicates the initiation site of transcription
known as promoter.
● RNA Polymerase enzyme binds to the promoter and begins to add complementary bases to the template
strand, the process being similar to replication. The only difference here is that in case of mRNA, the
nitrogenous base Thymine is replaced by Uracil.

Elongation ● The RNA Polymerase enzyme moves along the 3’→5’ template strand and adds new nucleotide base pairs
complementary to that of the template strand.
● With the addition of new nucleotide base pairs, the RNA strand keeps elongating.

Termination ● RNA Polymerase encounters a definite DNA sequence known as the terminator which acts as the stop
signal for termination. Once it encounters this sequence, transcription stops.
● The freshly synthesised mRNA is known as nascent mRNA or pre-mRNA (direction is 5’→3’) and will undergo
some changes before it enters the translation phase which are known as post-translational modifications. Some
of which are:
- Some sections of the newly created mRNA contain sequences that do not code for proteins. In a
process called splicing, these non-coding sequences (also termed as introns) are removed and
the coding regions (known as exons) are joined together.
- When the mRNA is exposed to the cytoplasmic environment during its journey to the ribosome,
there are chances of it being destroyed by certain cytoplasmic enzymes called ribonucleases.
To avoid this, at the 5’ end a 7-methylguanosine cap and at the 3’ end, an extension of around
250 Adenine residues known as Poly (A) tail are added.

Translation Translation is a process where mRNA is decoded to build a protein that contains a specific series of amino acids.

● Process by which mRNA is transcribed to protein.

● Involves two types of RNA; tRNA and mRNA.
● Takes place in ribosome.
● Before translation begins, nucleotide base pairs are clustered in groups of 3 known as codons. Each codon contains 3
nucleotide base pairs formed by the combination of A, U, G and C.
● Out of possible 64 codons, 61 codons code for different amino acids which are the backbones of the polypeptide/protein
synthesized after translation. The other 3 codons act as terminators of the translation process and are termed as stop
 codons.
● The amino acids are brought by the tRNA molecules.

The whole process of translations is also divided into 3 steps:

Initiation ● As soon as the start codon AUG is identified, two subunits of ribosome, the large subunit and the
small subunit, associate together.
● The tRNA molecule carries the amino acid for the start codon AUG, Methionine. The tRNA molecule
contains an anticodon region complementary to the codons in the mRNA which allows them to join.

Elongation ● The ribosome moves along the mRNA and keeps adding amino acids based on the codon in the mRNA.
The amino acid of the second codon forms peptide bond with the amino acid of the first codon and in
the same manner as the ribosome moves, each new amino acid forms bond with the previous one
forming a polypeptide chain.
● As the peptide chain elongates, the ribosome is divided into three sites. The A site is where new tRNA
molecules enter the ribosome, the P site is where peptide bonds are formed and E site is the exit site
from which empty tRNA molecules whose amino acids have already bonded with existing amino acids
exit the ribosome.

Termination ● The polypeptide chain keeps elongating until any of the three stop codons UAA, UAG or UGA are
detected. Once the ribosome encounters the stop codon, it triggers a series of events releasing a
polypeptide chain.
● The ribosomal subunits dissociate as soon as the polypeptide chain is released.
● The polypeptide chain undergoes different structural modifications to form a functional protein.

– assessing the
importance of
mRNA and tRNA in Importance of ● mRNA is considered as the first expression of genes.
transcription and mRNA and tRNA ● It holds information for precise synthesis of protein and each type of protein to be made from an mRNA strand is
translation decided by the codon arrangements in the strand.
● tRNA molecules are carriers of amino acids which are the backbones of protein molecules.
– analysing the
Importance of ● For creating proteins that carry out different functions in our bodies. For example, proteins actin and myosin build
function and
polypeptide up our muscles.
importance of
synthesis ● For creating enzymes that control different biochemical pathways happening inside the cells. For example, cellular
polypeptide
respiration takes multiple steps which are controlled by different enzymes.
synthesis
● Proteins control different characteristics of every living organism. Thus, what we are overall is because of different
types of protein expressions. Without polypeptide synthesis, life would have been small and our existence wouldn’t
– assessing how
have been very different from what it is now.
genes and
● Polypeptide synthesis forms products that are necessary to carry out replication, transcription and translation as
environment
well.
affect phenotypic
expression
Effects of ● Expression of phenotype is often controlled by environmental factors.
environment in ● For example, natural factors such as light, temperature, nutrient availability, water etc. can affect phenotypic
phenotypic expression of plants.
expression ● An example of how environment affects phenotype is hydrangeas. Hydrangeas are plants that have different flower
colours (pink and blue) depending on the PH of the soil they are in (environment). Soils with pH less than 5 (acid)
they are blue and soils with pH more than 7 (alkaline) they are pink.

Effects of genes in
phenotypic
Dominance ● In heterozygous genes, if one allele dominates/obstructs the expression of another allele it is
expression
known as dominance.
● Example:
Let, T = allele for tallness of plants (dominant)
t = allele for dwarfness of plants (recessive)

Incomplete ● Both alleles in a gene pair are partially expressed creating an intermediate character. None of
Dominance the alleles are dominant.
● Example:
Let, RR = genotype for red coloured flower
rr = genotype for white coloured flower
● Flowers having Rr genotype will neither be red nor white rather, the combination of red and
white produces pink coloured flowers.

Codominance ● Closely related to incomplete dominance codominance, is when both alleles are simultaneously
expressed in a heterozygous gene pair.
● The A and B alleles for blood type can both be expressed at the same time, resulting in type AB
blood.

Epistasis ● Effect of non-allelic gene pairs on one another.

● Can be of variant types:
- Recessive Epistasis: Complete dominance at both gene pairs; however, when one gene
is homozygous recessive, it hides the phenotype of the other gene
- Duplicate recessive epistasis: Complete dominance at both gene pairs; however, when
either gene is homozygous recessive, it hides the effect of the other gene
- Dominant epistasis: Complete dominance at both gene pairs; however, when one gene
is dominant, it hides the phenotype of the other gene
- Duplicate dominant epistasis: Complete dominance at both gene pairs; however, when
either gene is dominant, it hides the effects of the other gene
- Dominant and recessive epistasis: Complete dominance at both gene pairs; however,
when either gene is dominant, it hides the effects of the other gene
- Duplicate interaction: Complete dominance at both gene pairs; however, when either
gene is dominant, it hides the effects of the other gene
Investigate the Function of Proteins
structure and Proteins are essential biomolecules that perform a wide variety of functions in living organisms. Here are some of the key functions of
function of proteins
proteins in living · Enzymes: Proteins act as biological catalysts, speeding up chemical reactions that are essential for life.
things
· Structural support: Proteins provide structural support to cells, tissues, and organs, helping them maintain their shape and stability.
· Transport: Many proteins act as transporters, helping to move molecules and ions across cell membranes and throughout the body.
· Hormones: Some proteins act as hormones, which are chemical messengers that regulate various physiological processes.
· Defence: Antibodies are specialised proteins that help the immune system defend against foreign invaders, such as bacteria and
viruses.
· Storage: Some proteins can store important molecules, such as oxygen in muscle tissue.
· Signalling: Proteins are involved in many signalling pathways that allow cells to communicate with one another and coordinate their
activities.
· Movement: Proteins are involved in muscle contraction and other forms of movement in the body.
· Regulation: Proteins can regulate gene expression, metabolic pathways, and other cellular processes.

Structure of Proteins
Proteins are complex biomolecules that are composed of long chains of amino acids. The structure of proteins can be described at four
levels: primary, secondary, tertiary, and quaternary.
Primary Structure Secondary Structure Tertiary Structure Quaternary Structure
This is the linear sequence of amino This refers to the local three- This is the overall three-dimensional shape Some proteins consist of multiple
acids that make up the protein. It is dimensional structure of segments of the entire protein molecule, which is polypeptide chains that are
held together by peptide bonds of the protein chain. Two common determined by the folding of the assembled into a larger functional
between adjacent amino acids. types of secondary structure are secondary structure elements into a unit. The arrangement of the
the alpha helix and beta sheet, compact and stable structure. The folding individual chains in the quaternary
which are stabilised by hydrogen is driven by interactions between the side structure can be described as
bonds between the backbone atoms chains of the amino acids, including oligomeric, in which the subunits are
of the amino acids. hydrogen bonds, ionic bonds, hydrophobic identical, or heteromeric, in which
interactions, and disulfide bonds. the subunits are different.

The amino acid sequences. The amino acid sequence with The amino acid sequence with Made up of single polypeptide
folding as a result of hydrogen secondary folding, making it three- chains and have three levels of
bonding. dimensional, caused by interactions structure.
between the polypeptide and its
immediate environment.
 The precise structure of a protein is critical to its function, which can include enzymatic catalysis, transport, structural support,
signalling, and many other roles in the cell. Any changes in the structure of a protein can affect its function, leading to disease or
other health problems.

GENETIC VARIATION
How can the genetic similarities and differences within and between species be compared?
Conduct practical Homozygous: identical alleles in a gene pair
investigations to Heterozygous: different alleles in a gene pair
predict variations Genotype: alleles present in an organisms chromosomes
in the genotype of Phenotype: outward appearance of an organism, determined by alleles expressed
offspring by
Autosomes: Chromosomes 1-22 (homologous)
modelling
meiosis, including Sex chromosomes: chromosome 23 (heterosomes)
the crossing over
of homologous
chromosomes,
fertilisation and
mutations
*different species of animals have different numbers of chromosomes*
Humans: 23
Dogs: 39
Lions: 19
Plants: hermaphrodite—they can make both female and male gametes in the same plant

Variations due to ● During the formation of zygote, the single celled zygote receives 50% trait from each parent. Thus, the genotype
Fertilisation, of the zygote is a “mixture” of that of the parents and thus, the zygote, when develops into a complete organism
Crossing Over of shows variant characteristics.
Chromosomes and ● Crossing over during meiosis cell division also accounts for genetic variation, because due to the swapping of
Mutations genetic material during crossing over, the chromatids held together by the centromere are no longer identical.
Homologous chromosomes, one inherited from each parent pair along their lengths, gene by gene. Breaks occur
along the chromosomes, and they re-join, trading some of their genes. The chromosomes now have genes in a
unique combination.
● Mutations (alterations in gene due to a number of external factors including chemicals and environmental
radiations) have a great amount of contribution in genotypic variation because:
- Mutations can introduce new character which means new genotype
- Mutations can alter certain traits by absolutely silencing a particular gene thus producing genotypic
variation
- Mutations can also produce different products from similarly sequenced mRNA transcripts

Example of ● Taking the example of Drosophila melanogaster

genotypic variation - In Drosophila, two pairs of characters are involved in a dihybrid cross. Mutant fly having recessive
due to crossing over characters of pink eyes (r) and curled wings (s) is crossed with a wild fly having dominant characters of
red eyes (R) and straight wings (S).
 - In this cross, all the progeny of F1 hybrids shows red eyes and straight wings having genotype RrSs.
- Now a female from these F1 hybrids is crossed with a double recessive male of P generation which is
known as a test cross. This F1 hybrid female will produce four types of gametes.
- When F1 female gametes mated with single type of male gametes, the F2 generation consists of 49% flies
with red eyes and straight wings, 49% with pink eyes and curled wings, 1% with red eyes and curled wings
and 1% with pink eyes and straight wings.
- This result in F2 generation shows that the two types are non-cross overs which combine to form 98% and
two types of new combinations or re-combinations of the remaining 2% are produced due to crossing over.
- This experiment shows that both the genes for each allelic pair are situated in the same chromosome.
They connected together in 98% gametes having no chromosomal interchange but in the remaining 2%
gametes there is interchange between their non-sister chromatids of the homologous chromosomes. This
interchange of segments of chromatids occurs due to crossing over.

Example of Sickle Cell Anaemia:

genotypic variation - Sickle-Cell Anaemia is an autosomal recessive disorder that affects 1 in 500 African Americans.
due to mutation - The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in
deformed red blood cells.
- These sickle-shaped cells cannot carry nearly as much oxygen as normal red blood cells and they get
caught more easily in the capillaries, cutting off blood supply to vital organs.

Model the
formation of new
combinations of Autosomal • There are TWO possible alleles of each gene
genotypes Genotype • One allele dominates the other allele when they come together in the heterozygote so that only the dominant allele is
produced during expressed in the phenotype
meiosis, including • There are only TWO possible phenotypes
but not • The phenotypes are discrete e.g. tall and short peas, yellow peas and green peas
limited to: • A cross between two heterozygous organisms gives a ratio of 3:1 (three dominant phenotypes to 1 recessive phenotype)
which is known as the Mendelian ratio
– interpreting
examples of YY = Yy = yy =
autosomal, sex-
linkage,
codominance,
incomplete
dominance and
multiple alleles
– constructing and
interpreting
information and
data from
pedigrees and
Punnett squares

Sex-linkage Sex linkage inheritance: when traits are passed on the sex chromosomes (X or Y)
• TWO alleles exist in the population
• The alleles are carried on the X chromosome
• Females have two alleles because they have two X chromosomes
• Males have one allele because they have only X chromosome (there is NO corresponding allele on the Y chromosome)
• Males are more likely to get sex-linked diseases because if they inherit a recessive gene they will not have a
corresponding normal dominant allele to mask its effect
• Therefore males cannot be carriers
• Males inherit the defective allele from their mothers and pass it to their daughters
• When solving sex-linked problems the chromosomes are shown as well as the genes so that males and females are easily
distinguished
• The phenotypes are discrete e.g. colour-blindness and normal vision, muscular dystrophy, haemophilia
XBXb x XBY

• Because X-linked characteristics are often recessive, and females have two X-chromosomes, if the individual is
heterozygous for the trait, they will not exhibit the trait (it is cancelled out by the dominant on the other X)
• X-linked traits are more common in males than in females (in humans), because males only have one X chromosome. If
they have the recessive trait on that X, there is nothing on the Y chromosome to dominate it, so the trait/phenotype will be
expressed
• When a locus (location) for a gene lies on the X chromosome, the disease is said to be X-linked. The inheritance pattern
for X-linked inheritance differs from autosomal inheritance only because the X chromosome has no homologous chromosome in
the male, the male has an X and a Y chromosome. The Y chromosome possesses fewer genes than the X chromosome. In humans,
X-linked genes include colour-blindness, muscular dystrophy and haemophilia.

• As with any X-linked trait, the disease is never passed from father to son.
• Males are much more likely to be affected than females. If affected males cannot reproduce, only males will be
affected.
• All affected males in a family are related through their mothers.
• Trait or disease is typically passed from an affected grandfather, through his carrier daughters, to half of his grandsons.

X-Linked recessive
Two copies of the gene is required for expression in the phenotype
• The trait is never passed from father to son.
• All daughters of an affected male and a normal female are affected. All sons
of an affected male and a normal female are normal (because they inherit the X
chromosome from mother).
• Matings of affected females and normal males produce 1/2 the sons affected
and 1/2 the daughters affected.
• Males are usually more severely affected than females. The trait may be
lethal in males.
• In the general population, females are more likely to be affected than
males, even if the disease is not lethal in males

X-Linked Dominance
Only one copy of the gene is required for expression in the phenotype

If father is affected:
 - All daughters affected
- No sons affected (as Y chromosome is inherited by father and X affected chromosome is inherited by mum)

If mother is affected:
- 50% of daughters and sons risk inheriting the affected gene
- Disease: Hypophosphatemic ricket

Codominance • There are TWO possible alleles

• Both are expressed in the phenotype if they are inherited together i.e. one does not dominate the other
• A monohybrid cross is the hybrid of two individuals with homozygous genotypes which result in the opposite phenotype
for a certain genetic trait.” “The cross between two monohybrid traits (TT and tt) is called a Monohybrid Cross
• There are THREE possible phenotypes
• The phenotypes are discrete e.g. red, roan, white
• The alleles are in capitals and different letters used to show that they are equally dominant
RR = RW = WW =
Incomplete Neither allele is completely dominant over the other
Dominance • There are TWO possible alleles
• When the two different alleles are inherited together, they are expressed phenotypically in a blended form
• There are THREE possible phenotypes e.g. red snapdragons, white snapdragons and pink snapdragons
• The gene is given a capital letter and the alleles are also in capital letters but are superscript.

CRCR = CWCW = CRCW=

Multiple Multiple alleles refer to the presence of more than two alleles for a particular gene in a population.
Alleles • However, individuals can only inherit two of the alleles (only have 2 homologous chromosomes)
• Alleles can be dominant over another allele e.g. coat colour in rabbits
• Sometimes alleles are codominant e.g. human blood types

IA and IB are co-dominant with each other but are dominant over i
 Punnet Squares
Punnett squares are tools used to model and interpret patterns of inheritance. A pedigree is a visual representation of a family's
genetic history, showing the relationships between individuals and their inheritance of specific traits or disorders. Punnett
squares are grid-like diagrams used to predict the possible genotypes and phenotypes of offspring based on the genotypes of
their parents.

Pedigree Charts
Pedigree Charts are tools used to model and interpret patterns of inheritance. A pedigree is a visual representation of a family's genetic history,
showing the relationships between individuals and their inheritance of specific traits or disorders. Punnett squares are grid-like diagrams used to
predict the possible genotypes and phenotypes of offspring based on the genotypes of their parents.

collect, record
and present data
to represent
frequencies of
characteristics in
a population, in
order to identify
trends, patterns,
relationships and
limitations in
data, for example:

– examining
frequency data
– analysing single
nucleotide
polymorphism
(SNP)
INHERITANCE PATTERNS IN A POPULATION
Can population genetic patterns be predicted with any accuracy?
investigate the DNA sequencing and profiling are powerful technologies that can be used to determine inheritance patterns in a population. DNA
use of sequencing involves determining the exact order of nucleotides in a DNA molecule, while DNA profiling involves analysing specific
technologies to regions of an individual's DNA to create a unique genetic fingerprint.
determine
inheritance
patterns in a
population using, Single Nucleotide ● Single Nucleotide Polymorphism (SNP) is a variation in a nucleotide in a specific gene that can occur in
for example: Polymorphism a certain population to a certain extent.
● Polymorphism = individuals with different phenotypes
- DNA sequencing - Polymorphisms usually arise because of a mutation.
and profiling
● SNPs are a ‘typing error’ in DNA where one base is replaced by another
● To be termed an SNP (rather than simply a ‘mutation’) the altered nucleotide sequence must be
present in at least 1% of the population.

DNA Sequencing Sanger Sequencing:

Technology 1. Clone many copies of the gene interest.
2. The gene is cut up into many pieces so that there is a piece that terminates every nucleotide in the
sequence.
3. Fluorescently tag the last nucleotide of each DNA sequence in a different colour for each base.
4. Run these edited DNA pieces on a gel, this will separate out the pieces based on their molecular
weight. Smaller pieces run further than larger pieces, forming distinct bands.
5. Irradiate the gel to obtain the fluorescent profile of each band. This allows you to see the specific
nucleotide at each place along the sequence.
(eg) the smallest piece (1 nucleotide long) will be the furthest band on a gel. This band is fluorescent
green, so we know that the nucleotide at the first place on the gene is A (adenine). The next band
down (second smallest) represents the smallest nucleotide sequence, it glows red, so it is T (thymine).

investigate the Population genetics studies are used to investigate the inheritance of particular diseases or disorders.
use of data
analysis from a
large-scale Population Genetics for Tasmanian Devils – Conservation Management
collaborative
Description of The Tasmanian Devil, Sacrophilus Harrisii, is an endangered species with a decreasing population.
project to identify
Study
trends,
“large scale study” The Save the Tasmanian Devil Program (STDP) is the official response to the threat of extinction of the Tasmanian devil due to
patterns and & “collaborative” Devil Facial Tumour Disease (DFTD). The vision for the program is for an enduring and ecologically functional population of
relationships, for
Tasmanian devils in the wild in Tasmania.
example:
The STDP, an initiative of the Australian and Tasmanian governments, was established in 2003 following a national workshop
- the use of
of specialists on the decline of the Tasmanian devil due to DFTD.
population
genetics data in
Trends Save the Tasmanian Devil Program (STDP)
conservation
Short life span: life expectancy of 5 years
management
Low genetic diversity
Conservation management is affected by the short life span of the Tasmanian devils.
Life expectancy reduces to 3-6 months.

Patterns - 40% decrease in devil numbers from 1995 to 2002 to 2005.

- By 2013, there were over 500 disease free Tasmanian representing over 98% genetic diversity within the species in
zoos and wildlife parks throughout Australia
- This decline in population was primarily caused by the outbreak of DFTD. The decrease in numbers highlighted the
urgent need for intervention to save the species from extinction.

Relationships - These relationships demonstrate the collaborative nature of the STDP, where government agencies, conservation
organisations, researchers, local communities, and international partners work together to protect and restore the
Tasmanian devil population.
- In 2017, scientists developed ways to ‘switch on’ the devils immune system with cytokine hormones being injected into
the animals, activating the T cells to destroy the cancer cells. This has seen large cancer growths caused by DFTD to
have disappeared within several months with scientists now working on a vaccine.

- population · Inheritance patterns refer to how genetic variants are distributed in families.
genetics studies · The genetic load (or genetic burden) is the difference in fitness between an average genotype from a population with a reference
used to determine genotype or ‘ideal’ individual.
the inheritance of
a disease or
disorder Population Genetics for Sickle Cell Anaemia – Disease

Description of Sickle cell anaemia (sickle cell disease (SCD) is a group of disorders that misshapen red blood cells due to an atypical
Study haemoglobin called haemoglobin S which caused red blood cells to become more rigid and likely to stick together to block
“large scale study” small blood vessels, reducing life expectancy.
& “collaborative”
Sickle Cell Data Collection (SCDC) Program - collects health information about people with SCD to study long-term trends in
diagnosis, treatment, and healthcare for people with SCD in the United States. The program helps to inform policy and
 healthcare standards that improve and extend the lives of people with SCD.

Trends - Since heterozygotes (carriers of the sickle cell allele) have some protection against malaria – the lethal allele stays in
the population
- In the African region, 38 403 deaths from sickle cell disease were recorded in 2019, a 26% increase from 2000.
- Common in children

Patterns Common amongst people with ancestors from Africa and Mediterranean countries (e.g. Greece, Turkey, Italy, Middle East,
India and Spanish-speaking area of South America and Central America

Relationships - These relationships demonstrate the collaborative nature of the STDP, where government agencies, conservation
organisations, researchers, local communities, and international partners work together to protect and restore the
Tasmanian devil population.

- In 2017, scientists developed ways to ‘switch on’ the devils immune system with cytokine hormones being injected into
the animals, activating the T cells to destroy the cancer cells. This has seen large cancer growths caused by DFTD to
have disappeared within several months with scientists now working on a vaccine.

- population
genetics relating
to human Population Genetics relating to – Human Evolution
evolution
Description of Humans are classified as primate as they have features including an opposable thumb, shoulder joint with high rotating
Study ability, forward facing eyes, reduced snout.
“large scale study”
& “collaborative”

Trends - Skull size decreased and changed shape

- Reduction in jaw size
- Bipedalism (where a tetrapod (four legs) moves by means of its two rear (or lower) limbs or legs.)
- Brain size increased

Patterns - Earliest fossils found in Africa

- Genetic sequencing found variation
- Polymorphic features – eg. height, skin colour
- Sexual dimorphisms - e.g. secondary sexual features
- The first recognized primate fossils were found in 1856 in a cave in the Neander Valley in Germany.
- In 1908, Marcellin Boule found the body of a 40-year-old Neanderthal who was unusually robust and had osteoarthritis.

Relationships In 1997, Svante Paabo found that there were 27 differences on one strand of neanderthal DNA, whereas the maximum genetic
variation for human race on same strand is 8. This provided evidence for Neanderthals splitting off before homo sapiens and
evolving separately – thus helped distinguish between modern humans and Neanderthals