Heredity

Dot Point 1
Explain the mechanisms of reproduction that ensure the continuity of a
species, by analysing sexual and asexual methods of reproduction in a variety
of organisms.
Asexual reproduction- involves only one parent and no sex cells or gametes, resulting in
offspring that are genetically identical to the parent.
Sexual reproduction- involves two parent, who produce offspring that contain a mix of the
parent’s genes and therefore different to each other and their parents eg; pollination via
insects, birds or wind (plants)
Sexual Asexual
No. of parents 2 1
Genetic variation in High Low
offspring
Length of cycle Longer shorter
Example Humans bacteria
Plants-
Male- stamen = filament and anther
Female – carpel = stigma, style and ovary
Animals; advantages and disadvantages off external and internal fertilisation
Internal- fertilisation of the nuclei of a sperm and egg that occurs inside the body
External- fertilisation of the nuclei of a sperm and egg that occurs outside of the body
Internal External
Likelihood of successful High Low
fertilisation of eggs
Location of development of Inside the female Outside female
zygote
Likelihood of fertilised egg High low
surviving until birth
Number of eggs produced Few Many
Environment in which Terrestrial Aquatic
fertilisation occurs
Examples Dogs turtle

Plants;
- Asexual - runner, bulbs, cuttings (plants
- Sexual- pollination via insects, birds or wind (plants) can be self-pollination or cross
pollination.
Fungi;
- Asexual- budding (where a part of the adult organism divides by mitosis and
produces a small bud, which separates from the parent and grows into a new
individual)
 - Sexual- spores (produce huge number of spores, they are light so easily dispersed by
wind, water or animals, they germinate in new locations to form a new fungus
Bacteria;
- Asexual- binary fission (involves division of a eukaryotic cell into two- replicates DNA
and divides).
Protists;
- Asexual- binary fission (involves division of a eukaryotic cell into two- replicates DNA
and divides).

Dot Point 2
Analyse the features of fertilisation, implantation and hormonal control of
pregnancy and birth in mammals
Hormones- chemical substances that act as a messenger to the body, coordinating many
aspects of functioning.
Follicle stimulating hormone (FSH) causes an egg follicle to start developing in the ovary.
Oestrogen- developing an egg produces oestrogen, peaks before ovulation
Luteinising hormone (LH)- triggers ovulation
Progesterone- an empty egg follicle produces progesterone to thicken the endometrium

Follicle- small sac found in the ovary that contains one immature egg, release oestrogen
Ovary- female reproductive organ, contains follicles
Corpus Luteum- develops after a follicle rupture and releases an egg during ovulation,
releases oestrogen and progesterone.
Menstruation- endometrium disintegrates, menstrual bleeding
Endometrium- tissue that lines uterus
Follicular Phase- first half of ovarian cycle, one follicle matures, oestrogen levels rise,
stimulates thickening of endometrium, in middle egg burst out of follicle = menstruation
Luteal Phase- second half of ovarian cycle, corpus luteum produces oestrogen and
progesterone, causes endometrium to thicken and stabilise, at end corpus luteum
disintegrates, decrease in progesterone and oestrogen resulting in ovulation.
Implantation-
1. Sexual intercourse
2. Muscular contract causes semen to move into the vagina
3. Sperm travels through cervix, into uterus and into an oviduct (fallopian tube)
4. A single sperm fertilises an egg
5. As a zygote travels down the fallopian tube to the uterus, it begins to grow through
mitosis and begins to develop into an embryo
6. Embryo implants in the endometrial wall of the uterus to continue developing

First Trimester- HCG rises rapidly, maintaining the corpus luteum, ensuring uterus remains
receptive to an embryo. Decrease in GnHR, RSH, LH, preventing menstruation.
Seconds Trimester – high levels of oestrogen and progesterone, corpus luteum deteriorates,
placenta now produces these hormones
Third Trimester - increases oestrogen, oxytocin triggers labours, causes muscular
contraction, placenta releases prostaglandins stimulate contractions
 Dot Point 3
Evaluate the impact of scientific knowledge on the manipulation of plant and
animal reproduction in agriculture
 Agriculture is the growth of crops and animals for human needs
 Selective breeding- refers to the creation of organisms with certain desirable
characteristics.
 Natural Breeding, artificial insemination, artificial pollination and cloning
 Placing male and female people in a field together.
 AI- taking sperm from a male and inserting it into a female
 AP- taking pollen from one flower and inserting it directly into another flower using a
small brush.
 Cloning- A genetic identical copy of an organism using genetic engineering
techniques.

Positive Impacts
Increased sale- more production or improved quality
Increased resistance to certain pests and disease- save money and good for environment

Negative Impacts-
Reduced biodiversity- undesirable traits bred out, more likely to suffer in change in
environment

Scientific Knowledge about Reproductive How reproduction is Impact of Knowledge: Advantages and or
Reproduction Technique (and manipulated in disadvantages (or ethical concerns) of this
when it was plants and or technique.
introduced) animals using this
techniques

Characteristics are likely to
be passed onto offspring.
Selective Breeding- Reproduction is This has allowed farmers to improve their
Is an ancient planned and breeding stock to make the product
technique that has controlled for greater quality and a larger quantity. A
been used for tens example a specific disadvantage is is reduces the biodiversity
of thousands of bull mates with a and variety among a species but this is not
years. particular cow at a seen as an ethical issue as it has been
particular time. happening for so long.  

Techniques that allow for
the alteration of an
organism’s genome and
genes be transferred from
one organism to another.
Cloning- is the Using this technique, The advantages of this is that you can
production of new the DNA can be clone something so it has exactly the same
individuals that transferred or DNA and favourable characteristics. This
contain the same specific genes can be eliminates error. However, for animals the
genetic information transferred to disadvantages include significantly
as the parent improve the species. reducing the diversity and variety among a
organism. This For example, GM has species which could lead to a dramatic
technology has been used to suffering of the species if the
been developed improve the quality environmental or other conditions change.
 over the last few and yield of meat,
decades. milk, eggs and wool.

Dot Point 4
Model the processes involved in cell replication
Mitosis
The part of a cell cycle during which active nuclear division takes place, to ensure that
replicated chromosomes separate and are equally distributed to the two identical daughter
cells
- In somatic cells (body cells)
- Responsible for growth and repair
G1 (first gap)- the cell grows and develops
S- synthesis of DNA to replicate chromosomes
G2 (second gap)- rapid cell growth and protein synthesis preparing for mitosis.
Prophase- DNA condenses, nucleus membrane disappears, spindles begin to form,
chromosomes join in homologues pairs attached by centrosomes
Metaphase- chromosomes line up in the middle, spindles attach
Anaphase- chromosome separate putting chromatids apart, move to opposite sides of cell
Telophase- two new nuclei form, forms a cell plate where a cell wall will form
Cytokinesis – two new daughter cells are formed
Meiosis
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
- Happens in sex organs (ovaries and testes)
- Creates 4 non-identical daughter cells
- Creates egg and sperm gametes
- 2 cell division
- Haploid
Meiosis I Meiosis II
- DNA replicates - Chromosomes line up individually
- Chromatin shortens and thickens to from - Spindles attach to centromeres
chromosomes - Spindles shorten, centromeres break and
- Chromosomes line up in homologous pairs chromatids move apart
connected by centromeres (one maternal and one - Cytoplasm separates, cell and nuclear
paternal) membranes form chromosomes unci
- Crossing over occurs (swapping of genes) - 4 non-identical cells (gametes)
- Spindles attach, shorten and homologous
chromosomes break apart from centromere
- Splits into 2
 DNA replication using the Watson and Crick DNA model, including nucleotide
composition pairing and bonding
Nucleotide- phosphate, deoxyribose sugar, and nitrogenous base (Adenine and Thymine (2
bonds) or Guanine and Cytosine (3 bonds)).
- Parent DNA molecule unwinds and unzips (bonds break to from 2 strands) by an
enzyme called helicase creating a fork
- Primase adds a short primer
- DNA polymerase binds free nucleotides according the complementary base-paring
rule
- Coil back into a double helix
- 2 identical daughter DNA molecules
- Is semiconservative eg; one leading and one lagging strand, one strand is the original
and the other is new.

Dot Point 5
Access the effect of the cell replication processes on the continuity of species
- Ensures embryo survive
- Allows for natural selection – survival of the fittest
- Allows for mutation – changes in DNA
- Fertilisation methods can occur to ensure individuals breed successfully

Dot Point 6
Construct appropriate representations to model and compare the forms in
which DNA exists in eukaryotes and prokaryotes
Prokaryotic Eukaryotic
Examples of organism Bacteria Animals
Nucleus & Membrane bound No Yes
organelles?
What shape are the Circular Linear
chromosome(S)?
Location of DNA Cytoplasm Nucleus
Relative amount of DNA Small Large
How many chromosome are One Multiple
there?
In what additional place(S) can The Plasmid Chloroplast and Mitochondria
DNA be found?
Dot Point 7
Model the process of polypeptide synthesis
- Transcription
DNA is found in the nucleus and that is where the first process of polypeptide synthesis
occurs. The first step is call transcription. Transcription is the process by which genetic
information is copied from a section of DNA onto a messenger RNA molecule. The mRNA
strand acts as a messenger which copies and carries genetic information from the DNA
inside the nucleus to the ribosomes in the cytoplasm. During transcription a gene unwinds
temporary at a particular strand which allows for an enzyme called RNA polymerase to
move along the master DNA strand attaching free RNA nucleotides according to the
complementary base-pairing rule. This is where the base Thymine is replaced with Uracil.
Therefore, the mRNA bases are Adenine, Uracil, Cytosine and Guanine. Within this pre-
mRNA there are coding regions known as exons which eventually get expressed as protein,
are interrupted by noncoding regions (introns). During a process of RNA splicing, introns are
removed and exons joined to form a mature mRNA molecule a coding sequence. The mRNA
strand is then released, moves through the nuclear pore and into the cytoplasm to a
ribosome.
- Translation
Translation is the process by which the copied genetic information on the mRNA is
converted into a polypeptide. Translation occurs when the mRNA in the cytoplasm attached
to a ribosome. Once attached to the ribosome, tRNA becomes involved. The tRNA’s job is to
transfer amino acids to the ribosome which are then made into polypeptides. tRNA consists
of an RNA molecule which as 3 nitrogenous bases on one side and an amino acid on the
other. The base sequence of the 3 nucleotides in the tRNA is called an anticodon.  An amino
acid contains both a carboxylic group and an amino group. Linking these two groups
together is this carbon atom, which we call the alpha carbon. Then bound to the alpha
carbon is a hydrogen atom as well as a unique side chain called the R group. The R group
makes each of the 20 amino acids different characteristics, allowing it to react with other
amino acids in specific ways Translation begins at the start codon AUG which is read on the
mRNA. As the ribosome moves down the mRNA strand, peptide bonds form in-between the
amino acids as the tRNA molecules line up according to the codons on the mRNA strand. For
example, starting codon with pair up with the anticodon UAC. After the amino acid has
bonded to another amino acid, the tRNA molecule is no longer needed and therefore is
released. The polypeptide continues to grow until it reaches a stop codon either UAA, UAG
or UGA. The polypeptide is the then released from the ribosomes. The polypeptide then
links, folds with itself or other polypeptides creating a distinct 3D structure known as a
protein.
 - Accessing the importance of mRNA and tRNA in transcription and
translation
MRNA-
mRNA is a single stranded nucleic acid. mRNA consists of a ribose sugar, phosphate
backbone and nitrogenous base (A, U, G, C). DNA does not leave the nucleus. As a result, a
message must be sent from the nucleus to the ribosomes where protein synthesis occurs.
This message is sent in to form the MRNA. Protein synthesis would therefore be impossible
without MRNA
TRNA-
tRNA is a small single-stranded nucleic acid. The tRNA molecule has a distinctive folded
three loop structure one of the loops contains an anticodon; a sequence of three
nucleotides, complementary to the corresponding sequence on the mRNA. Each Taya Renee
has a corresponding amino acid attached to the opposite end to the anticodon. As a result
of the complementary nature of the mRNA and tRNA codon-anticodon complex, the specific
sequence of amino acids is required for protein synthesis to occur.  protein synthesis for not
be possible without tRNA.

- Analysing the function and importance of polypeptide synthesis

If polypeptide didn’t exist there would be no proteins, thus no growth, repair, antibodies,
storage, transport, chromosomes or enzymes. If polypeptide synthesis wasn’t working
properly, protein could be deformed and dysfunctional.
Eg; without polypeptide synthesis working to create functional enzymes metabolism would
be too slow to maintain.
- Accessing how genes and environment affect phenotypic expression
Phenotype- an organism’s physical expression of a particular characteristics. Determine by 2
things the genes that are present (genotype) and environmental factors.
Genotype- an organism’s genetic makeup for a particular characteristic
Genome- an organisms complete set of genetic material, different organisms have different
genomes with different complexities
Alleles- alternative forms of the same gene eg; eye colour
Both genes and environment play a role, however, the amount is responsible for depends
on the particular organism and the characteristics you’re looking at. For some
characteristics, genes are the bigger determinant eg; eye colour while for other
characteristics, the environment is bigger eg; weight.
Dot Point 8
Investigate the structure and function of proteins in living things
Function
Structural- growth, repair and maintenance of tissues eg; collagen and actin
Enzymes- breaks down into a simpler structure or synthesise into something more complex
eg; DNA polymerase.
Hormones- chemicals which are secreted into the blood and travel to target tissues where
they cause a change in activity. Regulate body temperature eg; insulin
Storage- bind to certain substances and hold them in place eg; ferritin
Transport- bind to certain substances and carry them around the body eg; haemoglobin
Antibodies- involved in the immune system, react with antigens to help removes foreign
particles from the body eg; IgA

Structure
1. Primary- specific linear sequence of amino acids that make up a polypeptide chain
2. Secondary – regular, repeated patterns of folding of the protein backbone eg; alpha
helix and beta sheet
3. Tertiary- the overall folding of the entire polypeptide chain into a specific 3D shape
4. Quaternary – occurs when a protein is made up of two or more polypeptides

Dot Point 9
Conduct practical investigations to predict variations in the genotype of
offspring by modelling meiosis, including the crossing over of homologous
chromosomes, fertilisation and mutations
Dot Point 10
Model the formation of new combinations of genotypes produced during
meiosis
Autosomal
A pattern of inheritance and expression of genes, which are location on the autosomes
- If an organism has two different alleles (heterozygous) the dominant one will be
expressed eg; Bb
- If and organism has two of the same alleles (homozygous) which ever one they have
will be expressed eh; BB or bb
Sex-linkage
Refers to the genes that are located on the sex chromosomes. It is about how the Y
chromosome has less genes than the X chromosome, so that the male only has 1 copy for
certain genes (on his 1 X chromosome)
Co-dominance
Situation which both alleles are expressed in the phenotype, neither is dominant eg; roan
cow
Incomplete dominance
Occurs when one allele for a specific trait is not completely expressed over its paired allele,
results in a third phenotype this is known as the blending of the alleles in the phenotype eg;
snap dragon
Multiple alleles
There can be multiple alleles that determine a particular gene. Eg; rabbit fur colour or blood
type in humans
Pedigrees and Punnett squares
Heterozygous  non-pure breeding organism has two different alleles for a particular gene
Homozygous  pure breeding organism has two identical alleles for a particular gene
Tt = heterozygous tt= homozygous TT = heterozygous
T T
T TT TT
t Tt Tt

50% genotype = TT
50% genotype = Tt
100% phenotype of TALL
Dot Point 11
Collect, record and present data to represent frequencies of characteristics in
a population, in order to identify trends, patterns, relationships and
limitations in data
Examining frequency data
Looking at various data; height of yr 9 class
Analysing single nucleotide polymorphism
SNP’s are single base pair variation in the genome  a single nucleotide A, T, C or G is
different. Results in genetic variation. It occurs in around 1 in 300 nucleotides thus, each
human genome contains around 10 million SNP’s. Many SNP’s are in the introns, which do
not ode for protein synthesis, therefore they do not affect human health. However, SNP’s
that are in the Extron can affect human health as they do code for protein synthesis. Data
from SNP’s can provide information about individuals therefore, we can provide
personalised treatment

Dot Point 12
Investigate the use of technologies to determine inheritance patterns in a
population using
DNA sequencing
Involves determining the order of nucleotide bases in a stretch of DNA. The human genome
project (HGP) was a large-scale collaborative project that aimed to sequence the 3 billion
bases of the entire human genome and identify every human gene. Advantages of knowing
the DNA sequence include; how we respond to medicines, how we act, behave, know
genetic diseases, forensics. It identifies diseases, disorders, and evidence for evolution.
Sanga Method;
- Goal is to separately identify the position of each nucleotide
- Use 4 ‘special’ PCR’s
- Each different tube contains a chain terminating nucleotide
- Primer goes along allowing DNA polymerase to attach free nucleotides until it adds a
‘Guiane’ chain-terminating, resulting in the stopping of DNA synthesis
- Do this for each of the bases
- Run the gel to see how long or short
- To determine order start from shortest fragment eg; if shortest is C then there would
be a G on the original strand.
Capillary electrophoresis;
- Same but add fluorescent chain-terminating nucleotides
- Laser and detector determines bases
- Each base has its own colour
- Whatever colour is visible is the complementary base
DNA profiling
Process of analysing DNA variations for the purpose of identification. Looking at variations
or similarities of DNA; finger printing, paternal and crimes. DNA variation = genetic markers
= STR’s (short tandem repeats)
PCR; Polymerase chain reaction
Technique use to amplify DNA, involves copying DNA, occurs in test tubes, only a specific
region is copied
1. Template DNA
2. Free nucleotides
3. Heat-stable DNA polymerase
4. DNA polymerase (enzyme)
5. Primers – chemically synthesised DNA (they bind)
6. Buffer – prevent change in the pH changes (liquid)
1. Denaturation;
o Mixture is heated to 95 degrees
o Separates into 2 strands = template

2. Annealing;
 o Mixture cooled to 55 degrees
o Allows primers to bind to template DNA
3. Extension;
o Mixture heated to 72 degrees
o DNA polymerase moves down template synthesising new DNA
4. Denaturation;
o Heated back to 95 degrees
o Separates DNA, prevents DNA synthesis
o Process repeated again
Gel Electrophoresis;
Fancy filtering system, which is used to separate and visualise DNA fragments according to
their size. Uses fragments that have been amplified using PCR
Phosphate = negative charge
Sugar and nitrogenous bases = neutral
1. Prepare the set up
o Pour liquid agarose gel into a mould
o Insert well comb
o Once set place in gel box
o Immerse gel with buffer
2. Load DNA sample and DNA ladder
o DNA sample is transferred into its own well
o DNA ladder is added into well
3. Run the gel
o Power is turned on (current runs through)
o DNA will migrate through gel towards positive pole
o Gel is a matrix (lots of tiny pores)
o Small DNA fragments can fit through pores and move towards positive pores
quicker
o Separates DNA according to size
4. Visualising the DNA fragments
o Add dye to stain DNA fragments

Dot Point 13
Investigate the use of data analysis from a large-scale collaborative project to
identify trends, patterns and relationship
- The use of population genetics data in conversation management
- Population genetics studies used to determine the inheritance of a
disease or disorder
- Population genetics relating to human evolution
Monogenic disease 
- Mutation in a single gene in all cells of the body
- Prevalence = 10 in every 1000 births
- The most common genetic differences in the genome are single base pair differences
called ‘single nucleotide polymorphisms’ (SNP’s)
- Newborn screening in NSW for SNP’s associated with cystic fibrosis, urea’s cycle
disorders etc. (genetic conditions)
- Provides early detection and improved treatment options
A trait that is controlled by multiple genes is said to be polygenic eg; eye colours. Predicting
the phenotype of a polygenic trait is often difficult due to environmental influences.

Allele Frequency; is a measure of how common an allele is within a population

= No. of copies of allele (G) in the population/no. of copies of the gene (G+g) in the
population
Natural selection is the process by which individuals possessing traits that are advantageous
for survival in their environmental live to reproduce
- Natural selection can alter allele frequency as those that are more dominant will
have survived and out lived those that do not have that particular allele expressed.
These alleles are survival of the fittest.
Sexual selection is a process whereby some traits become more common in the population
due to mating partners being selected based on having such traits.
- Individuals with the ‘better looking traits’ are more likely to be chosen to mate with.
Due to this, the offspring is more likely to have this trait. Therefore, over time this
trait will become more dominant in the gene pool and more likely to have a higher
allele frequency.
Gene flow is a term used to refer to changes in allele frequency due to new individuals
entering a population or form individuals exiting a population
- Due to interbreeding, it will introduce new alleles to the population’s gene pool. This
then changes the allele frequency therefore, increases genetic diversity. This will be
more effective in a small population such as a zoo.
Genetic drift involves changes in allele frequency in the gene pool of a population due to
random chance.
- Bottleneck effect; when a chance event causes a drastic decrease in the population
size.
- Founder effect; when a new population is started by a small number of individuals
who are not representative of the original population.