HSC BIOLOGY MODULE 5-6 NOTES (And Some Mod 7)
HSC BIOLOGY MODULE 5-6 NOTES (And Some Mod 7)
MOD 5-6
SUMMARY NOTES
TABLE OF CONTENTS
HSC BIOLOGY 1
Module 5: Heredity 2
Reproduction 5.1 How does reproduction ensure the continuity of a species? 2
Cell Replication 5.2 How important is it for genetic material to be replicated exactly? 11
DNA and Polypeptide Synthesis 5.3 Why is polypeptide synthesis important? 18
Genetic Variation 5.4 How can the genetic similarities and differences within and between
species be compared? 24
Inheritance Patterns in a Population 5.5 Can population genetic patterns be predicted with any
accuracy? 29
Module 6: Genetic Change 30
Mutation 6.1 How does mutation introduce new alleles into a population? 30
Biotechnology 6.2 How do genetic techniques affect Earth’s biodiversity? 31
Genetic Technologies 6.3 Does artificial manipulation of DNA have the potential to change
populations forever? 31
Module 7: Infectious Disease 32
Causes of Infectious Disease 7.1 How are diseases transmitted? 32
Responses to Pathogens 7.2 How does a plant or animal respond to infection? 33
Immunity 7.3 How does the human immune system respond to exposure to a pathogen? 34
Prevention, Treatment and Control 7.4 How can the spread of infectious diseases be controlled?
34
Module 8: Non-infectious Disease and Disorders 35
Homeostasis 8.1 How is an organism’s internal environment maintained in response to a
changing external environment? 36
Causes and Effects 8.2 Do non-infectious diseases cause more deaths than infectious diseases?
36
Epidemiology 8.3 Why are epidemiological studies used? 37
Prevention 8.4 How can non-infectious diseases be prevented? 37
Technologies and Disorders 8.5 How can technologies be used to assist people who experience
disorders? 38
Module 5: Heredity
5.1.1.a – 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, including but
not limited to:
– animals: advantages of external and internal fertilisation
EXPLAIN : Relate cause and effect; make the relationships between things evident; provide why and/or how
Animals
ADVANTAGES: ADVANTAGES:
● Energy efficient ○ High genetic diversity
● Only requires 1 parent (don’t need to ○ Less prone to environmental change
go searching) ○ Facilitates adaptation
● No courtship required
DISADVANTAGES:
DISADVANTAGES: ○ Energy costly
● Low genetic diversity ○ Requires 2 parents (need to go
● Prone to environmental changes searching)
● Inhibits adaptation ○ Courtship is time and resource
consuming
■ Sperm and egg unite outside of ◻ Sperm and egg unite within female
female body body
■ Amphibians, fish ◻ Reptiles, birds, mammals
ADVANTAGES: ADVANTAGES:
■ Little energy required to mate ◻ Fertilisation is more likely to occur
■ Large number of offspring produced ◻ Embryos are protected from
■ Offspring can be spread widely = less predators, disease
competition ◻ Offspring more likely to survive
■ Female can continue reproducing ◻ Less gametes have to be produced
while the first young develop ◻ Developed young are fed
■ Young are widely spread, reducing
competition with parents and each DISADVANTAGES:
other ◻ Higher energy requirement to find
mate
DISADVANTAGES: ◻ Less offspring produced
■ Many gametes go unfertilised (less ◻ More energy needs to raise and care
successful) for young
■ Young need to fend for themselves ◻ Slower, lengthy, demanding on
immediately parents
■ Offspring often not protected by ◻ Potential for STD’s
parents; many deaths
■ No control over gametes once
released
■ Must occur in aquatic environment
■ Exposure to disease and predation
5.1.1.b
– plants: asexual and sexual reproduction
Plants
5.1.1.c
– fungi: budding, spores
Fungi
5.1.1.d
– bacteria: binary fission
5.1.1.e
– protists: binary fission, budding
Protists are all unicellular eukaryotic organisms. (eg. protozoa, plasmodium-malaria)
Protists reproduce/replicate by BINARY FISSION and BUDDING.
Similar to bacteria’s binary fission. A new organism grows from the parent
But there is a nucleus (unlike bacteria), so organism. It detaches to live away
DNA is stored there. The chromosome will independently or can remain in contact with
move to each side of the nucleus. Then, there the parent to form a colony. Due to unequal
is splitting of the nucleus and then splitting of cytoplasmic division, at first, the new
the cell membrane and cytoplasm into two organism is much smaller than the parent.
daughter cells. They have the SAME genetic material
(identical).
5.1.2 – analyse the features of fertilisation, implantation and hormonal control of pregnancy
and birth in mammals
FERTILISATION - combination of male and female gametes to form a fertilised egg (ZYGOTE).
The ZYGOTE contains a new fusion of genetic material from both parents (VARIATION).
VARIATION increases the chances of survival in the case of environmental changes.
Mammals: animals with these characteristics - mammary glands (young fed milk), endothermic
(warm-blooded), have a backbone and hair or fur.
- MAXIMISE reproductive SUCCESS via INTERNAL FERTILISATION (high chance of gametes
meeting), the process of IMPLANTATION (high chance of embryo survival), PROTECTION
from external environment, and constant NUTRIENTS being provided.
Endocrine System
HYPOTHALAMUS: controls body temp and releases hormones (main controller)
The hormones travel through the BLOODSTREAM into the PITUITARY GLAND.
Pituitary gland releases hormones and controls amount released by other glands (eg. thyroid
gland).
PREGNANCY HORMONES
Oestrogen (ovary): organ development of the foetus, grows breast tissue, stimulates growth of
endometrium, produces mucus so sperm doesn’t enter.
Human Chorionic Gonadotropin (hCG): stops ovulation, maintains corpus luteum for
progesterone production, increases blood supply to pelvis. Rises rapidly in the First Trimester.
Decreases in the Second Trimester.
Prolactin: stimulates lactation (milk release). Rapid increase during Third Trimester
Oxytocin: releases during childbirth, causes contractions (uterine muscles). Rise in Levels during
the Third Trimester.
Cortisol (2nd Trimester): regulates metabolism, blood sugar levels. Develops stretch marks and
high blood pressure.
Extra Notes (for entire dot point)
5.1.3 – evaluate the impact of scientific knowledge on the manipulation of plant and animal
reproduction in agriculture
SELECTIVE BREEDING: process where animals or plants that have desired traits are bred
together to reproduce offspring that will also have these characteristics.
The four basic steps of selective breeding are:
1. Determine the desired trait
2. Interbreed parents who have desired traits
3. Choose the offspring with the BEST form of the desired trait and interbreed them
4. Continually repeat this process until the population reliably reproduces the desired trait
Deposit of semen from a Manual transfer of pollen Creating an identical copy Used to produce large
bull into the uterus of a into stigma of another of an organism by using amounts of embryos for
cow to increase and plant. This helps them genetic engineering embryo transfer. Female
improve reproduction, reproduce as many natural techniques. Produces cattle are fed a medicine
milk and beef production. pollinators (bees) are identical plants quickly (Follicular Stimulating
Cost-effective, low becoming endangered and and for cheap. Not safe Hormone FSH) for a few
resources. need help to maintain and accurate. Not much is days that stimulate the
Increased risk of lowered food supply. known about cloning ovaries. Increases
genetic diversity and Time-consuming and technology. Potentially reproduction rate of
breed extinction. fertilisation is not help defeat malnutrition superior females. May
guaranteed. around the world. lead to negative health
side effects.
POSITIVES: improve the quality, nutrition and yield of products. Can make food more resistant to pests and
diseases.
NEGATIVES: Reduces biodiversity and genetic diversity as the selective breeding is reducing the range of genes in
the species, consequently affecting the organism’s survival in an environmental change.
INQUIRY QUESTION SUM UP: How does reproduction ensure the continuity of a species?
Reproduction ensures new individuals and offspring are produced so species do not go
extinct.
Asexual reproduction is advantageous in the way that it is efficient and does not require much
energy or resources.
Sexual reproduction is advantageous in the way that it introduces genetic variation among
offspring, which increases the chances of a species survival rates in environmental changes.
Cell Replication 5.2 How important is it for genetic material to be replicated exactly?
5.2.1.a – model the processes involved in cell replication, including but not limited to:
– mitosis and meiosis
Key Terminology:
Spindles - structure made of microtubules (strong fibres) in order to organise chromosomes and
move them around during mitosis.
Centromere - where the sister chromatids are connected; part of the chromosome that holds it
together.
Chromatid - one of the two identical halves of a chromosome.
Homologous (chromosomes) - a pair of chromosomes with the same genes, length, size,
material.
Chromatin - DNA wrapped around protein forming this substance
CELL REPLICATION: a process in which cells replicate their genetic material by dividing original cells.
DNA: found in every cell in the nucleus. Packaged in chromosomes. Small sections of DNA are called
genes. Genes code for different proteins. Proteins control metabolism, enzymes and hormones.
MITOSIS
Cell division where a parent cell divides to form two identical daughter cells.
PURPOSE: make SOMATIC CELLS. Cell division allows us to grow, repair damage and develop an organism.
46 chromosomes, 46 centromeres, 92 chromatids
Division Process:
INTERPHASE ↪ Where the cell spends most of its time.
(late G2 phase) ↪ Cell PREPARES for mitosis
↪ Chromosomes make copies of themselves (DUPLICATE)
↪ Duplicates stay attached to each other
↪ DNA is already copied; chromosomes in nucleus have
two copies; sister chromatids
CYTOKINESIS ↪ Final stage of the cell cycle. Diploid daughter cells are
(note: cytokinesis starts in produced and are identical to the parent cell
anaphase or telophase)
MEIOSIS I & II
Cell division that occurs twice that produces gametes that are haploid (n). Occurs in
reproductive organs: ovary and testes.
PURPOSE: creates gametes for sexual reproduction. Contributes to genetic variety.
23 sperm xy, 23 egg xx = 46 fertilised eggs
Key Terminology:
Nondisjunction - too many or too little chromosomes due to incorrect joining of chromosomes
in meiosis.
Crossing Over - when homologous chromosomes exchange genetic material between non-sister
chromatids (occurs in Prophase I)
Independent Assortment - homologous chromosomes randomly align in two rows (Metaphase I)
PROPHASE I ↪ Chromosomes condense so they are compact and become visible in the
nucleus
↪ Chromosomes begin to pair up in any order (random segregation)
↪ Nucleus (nuclear envelope) breaks apart and spindles move towards the
chromosomes
↪ CROSSING OVER
TELOPHASE I ↪ A nucleus forms around each group and the spindles start to break down
↪ Mitotic spindle is broken down/dissolves into its building blocks
↪ Cytokinesis is performed to make 2 haploid daughter cells
‘MODEL’ - Mitosis and Meiosis was modelled using paper plates, wool/string, cotton balls, and marker outlines.
This helped students understand the placement, movement and composition of chromosomes during cell
division. The advantage of the models is its ability to help us visualise the concept in a simpler way. The
disadvantage is its inaccuracy which may give students an incorrect understanding of the process.
5.2.1.b
– DNA replication using the Watson and Crick DNA model, including nucleotide composition,
pairing and bonding
DNA STRUCTURE
Deoxyribonucleic Acid has the code for proteins and information for inherited characteristics.
Nitrogenous Bases:
Adenine and Thymine have a double hydrogen bond.
Cytosine and Guanine have a triple hydrogen bond.
The DNA model helped scientists understand how genes control cellular
processes and characteristics.
Overview:
■ One DNA molecule = 2 strands of nucleotides
■ 2 strands twisted into a double helix
■ Weak Hydrogen bonds: makes it easier to ‘unzip’ the molecule for DNA replication
■ Antiparallel Arrangement: two complementary double helix strands where each strand
runs in opposite directions.
DNA REPLICATION
The processes of cell replication are fundamental for the continuity of species, and life in
general. The process of mitosis is significant as it creates new somatic cells that are required for
growth, maintenance and repair, ensuring that the organism reaches a point when it can
reproduce for itself. Mitosis also allows a zygote to form in an adult organism, reinforcing its
critical nature in a species’ continuity. Moreover, the process of meiosis is crucial as it allows
organisms to reproduce with an abundance of variation, enabling a higher chance of survival as
there is variety where the organism can adapt to changes in its environment. Furthermore, DNA
replication is essential for accurate transmission of genetic material from a cell to another,
evident in mitosis and meiosis. It also allows for the genetic information to be transferred with
the correct structure, functioning and behaviour of an organism, pivotal for its survival and
continuity.
However, a spontaneous error or mutation may arise due to environmental factors, which if
undetected, will result in permanent mutation that can cause malfunction. Although mutation
can allow for genetic variation, too much of it can disturb the organisms’ function.
5.3.1 – construct appropriate representations to model and compare the forms in which DNA
exists in eukaryotes and prokaryotes
Remember that the main difference between the two is the structure of their organelles
(membrane-bound structure performing specialised functions).
DNA in PROKARYOTES DNA in EUKARYOTES
↣ Are usually a single circular chromosome and ↣ Is linear, associated with HISTONES and found
plasmid in the nucleus
↣ Contain no HISTONES (protein supporting ↣ Genes contain INTRONS AND EXONS
chromosome) 1. Transcription: move and scribe. Movement of
↣ Is found in the cytoplasm in the nucleoid writing from DNA to mRNA. Removal of the
↣ Does not contain INTRONS (segment of DNA non-coding segments of DNA (introns).
that does not code for specific proteins) 2. Translation: move language from nucleotides
↣ Contains EXONS into amino acid sequences (part of our
protein makeup). This is where we get a
specific part of a protein.
Amino Acids: simple organic compounds and building blocks of proteins. → Essential aa:
obtained from food → Non-essential aa: produced by our bodies
Peptides: short chains of 2-50 amino acids
Polypeptides: linear molecules made of multiple peptides
Proteins: functional unit made of one or more polypeptides. → defined structure determined
by sequence and folding of amino acid chains - determines function of protein
Key Terminology:
DNA polypeptide synthesis requires two types of RNA: messengerRNA and transferRNA
⇉ Transcription: complementary mRNA copy of DNA gene is made in nucleus
⇉ Translation: mRNA sequence is converted into amino acid sequence carried by tRNA into
ribosomes
⇉ mRNA: single stranded nucleic acid – ribose sugar, phosphate backbone, nitrogen bases
⇉ tRNA: small RNA molecule that transfers specific amino acids to ribosome during
polypeptide formation
⇉ Codon: set of three nitrogen bases in mRNA
⇉ Anticodon: complementary set of three nitrogen bases in tRNA
TRANSCRIPTION:
– when a copy of a DNA backbone moves to a single-stranded mRNA molecule that leaves
nucleus for ribosome
TRANSLATION:
– occurs in ribosomes. DNA never leaves the cell; single-stranded mRNA molecule does
5.3.2.b
– assessing the importance of mRNA and tRNA in transcription and translation
ASSESS : Make a judgement of value, quality, outcomes, results or size
5.3.2.c
– analysing the function and importance of polypeptide synthesis
Function of Proteins
~ Proteins are a major component of every cell and have many roles in bodily functions ~
Messenger Proteins (hormones)- chemicals which are secreted into the blood to travel to
target tissues where they cause a change in activity
- They help regulate body processes
- Eg. Insulin > regulates the blood glucose levels
Storage & Transport Proteins- storage proteins bind to a certain substance to hold them in
place & transport proteins bind to substances and carry them around the body (eg.
haemoglobin - carrying oxygen)
Immunity Proteins- antibodies are proteins which react with antigens (foreign objects) to
remove them from the body. Eg IgA
⌴ Proteins have vital functions eg. structural, enzymes etc, and are found in every cell and
life couldn’t function without them
⌴ If protein synthesis didn’t exist, no proteins could be made, and the protein would have
the incorrect structure for the function
⌴ Polypeptide synthesis forms products that are necessary to carry out replication,
transcription and translation.
⌴ Eg. Enzymes - the function is determined whether the active site can bond to the
substrate which it aims to. If the shape is wrong, then there is no function
5.3.2.d
– assessing how genes and environment affect phenotypic expression
Genome - an organism's complete set of genetic material (DNA) - (info for growth and survival)
Genes - broken down sections of the DNA - coding for certain characteristics of a human (acts as
a template for mRNA in polypeptide synthesis)
Alleles- alternative forms of the same gene (eg. eye colour)
Genotype- an organism's genetic makeup for a particular characteristic (eg. eye colour - blue
(bb), brown (BB,Bb))
Phenotype - physical expression of the gene (eg. person with genotype bb has blue eyes)
How environmental factors affect phenotype
- At fertilisation, the zygote has the potential to grow into an adult with certain
characteristics
- ie. the phenotype is controlled by the genotype
Nutrition - if a baby is properly nourished, it has the capability to grow into the predicted
phenotype from the genotype however if the baby is malnourished, it may not grow to the full
potential (the body isn’t gaining the nutrients required to survive and grow)
Light Intensity - if a plant is grown in complete sunlight it should grow to the potential of the
genotype and have the phenotype, however if it’s grown in darkness, it will not grow as desired
- Both genes and the environment play a large role in the phenotype expression however
it is responsible for each case.
- Eg. genes are the most important in some characteristics - eye colour
- Eg. environment is the most important - weight
Dominance of Alleles- in organisms, alleles dictate the genotype of the organism, which then
dictate the phenotype of the organism. If the gene is heterozygous, the allele which is dominant
(capital letter) will be shown in the physical expression eg. brown eyes > blue eyes
Co-dominance - both alleles are simultaneously expressed in the phenotype eg. Rune Cattle
(patches of red and white), eg. Blood type - A & B blood type are shown together as AB
Protein - a molecule made of one or more polypeptide chains. These chains bond and fold to
make a unique three dimensional structure
- Inherently important as our cells are made out of them and we need protein to grow
and repair bodies
- Made of polypeptides; which are made of amino acids which are then made of carbon,
oxygen, nitrogen and hydrogen
- All proteins are made of polypeptides howeverpolypeptides are NOT made of proteins
- The function of a protein depends entirely on its structure
Structure of Proteins
Function of Proteins
Genetic Variation 5.4 How can the genetic similarities and differences within and between
species be compared?
Genetic Variation - a term used to describe the differences between the genomes (complete set
of DNA) of individuals and species. Also known as the differences in DNA of a group of
organisms
Fertilisation
- These gametes which have just gone through meiosis (already with Genetic variation),
now fuse with either a maternal or paternal gamete which have gone through meiosis as
well. They have different alleles and this contributes to the genotype/phenotype of the
organism
- It is highly unlikely that two gametes are the exact same and will lead to variation in the
offspring
Mutations
- A mutation is a change in the base sequence of DNA
- It can lead to a change in the genotype, as there is a change in the bases, this may
change the codon and can lead to differing DNA sequences > change the phenotype
- Eg. Sickle cell anaemia (affects how much oxygen the rbc can carry)
5.4.2.a – model the formation of new combinations of genotypes produced during meiosis,
including but not limited to:
– interpreting examples of autosomal, sex-linkage, co-dominance, incomplete dominance and
multiple alleles
Recessive Allele that does not have an effect when paired with a
dominant. Only has effect when paired with another rec.
Autosomal Inheritance
- The patterns and expression of genes which are located in the autosomes
- If the autosome is heterozygous, the dominant allele will be demonstrated through
phenotype
- If the autosome is homozygous, the allele will be shown as the phenotype
- Eg. eye colour - the dominant allele will be shown over the recessive (brown > blue)
Sex - Linkage
- Since chromosomes come in pairs, there are two copies of each gene, except in
sex-linked genes
- There are more genes on the X chromosome than the Y, making it larger
- As the male only has one copy of the X chromosome, the male will only show the gene
portrayed, meaning it could be negative (eg, haemophilia), whereas a female may have
the recessive and dominant genes (XX) and the dominant will show, however she will be
a carrier
Co-dominance
- Where both alleles are expressed in the phenotype eg. Roan cattle (red and white
patches of fur)
- Since they’re both co dominant, the alleles are capitals, eg, W - white, R - red, and can
be placed in the punnett square meaning that RW is the patches of red & white
Incomplete Dominance
- The dominant allele is partially expressed, meaning it doesn’t dictate the phenotype of
the organism eg. Snapdragon flower
- The dominant allele allows some of the recessive to break through meaning that there is
a blend in colour
- Eg. Red genotype is RR, white is rr, so there is 100% chance of Rr - resulting in pink
flowers
Multiple Alleles
- Three or more alternative forms of an allele that can create a variant number of
phenotypes when they exist in different numbers.
5.4.2.b
– constructing and interpreting information and data from pedigrees and Punnett squares
Punnett Squares
These are tables which predict the possible genotype and phenotype of the offspring, produced
by a male and female.
Eg. Eye colour: father has dominant heterozygous Bb brown eyes, and mother has recessive
homozygous blue eyes
B b
b Bb bb
b Bb bb
- Phenotype Ratio // 50% chance of brown eyes, 50% chance of blue eyes
- Genotype Ratio // 2 Bb : 2 bb or 1 Bb : 1 bb ratio
Pedigrees
A family tree which shows how organisms are related to one another & also show how
characteristics are passed on over generations.
Importance of Pedigrees
⌃ Useful as they allow scientists to understand what is happening with the inheritance of a
trait/disease
⌃ To figure out the inheritance pattern of a trait by seeing how often the trait is expressed
in the phenotype
⌃ Allows geneticists to examine the genotype of individuals, and whether they’re carriers
of the trait/will express it.
⌃ Important with genetic disease, as the couple who are having a baby will be able to see
the likelihood of the child developing a disease eg. cystic fibrosis
⌃ Can be used to see whether a person will have a disease later in life eg. Huntington’s
disease
5.4.3.b
– analysing single nucleotide polymorphism (SNP)
https://docs.google.com/document/d/1mjKYrkUJt1n--eSA2u60kBW4AZnylFyQnEI7aggFvHo/edi
t
Allele Frequency: how common an allele is in a population. Count how many alleles are present
in the genetic area of a population, then divide it by the total number of gene copies in the
population.
Inheritance Patterns in a Population 5.5 Can population genetic patterns be predicted with any
accuracy?
5.5.2.a – investigate the use of data analysis from a large-scale collaborative project to identify
trends, patterns and relationships, for example:
– the use of population genetics data in conservation management
5.5.2.b
– population genetics studies used to determine the inheritance of a disease or disorder
5.5.2.c
– population genetics relating to human evolution
Monkeys, mushrooms, and all other living creatures have a gene that codes for a protein called
Cytochrome C, which plays a central role in releasing energy from food.
Humans are most closely related to the rhesus monkey (only once different in amino acid
sequence).
Amino acid sequence data helps to infer patterns of evolutionary relationships as they are the
building blocks of proteins, meaning they reflect the level of evolutionary relatedness between
species. The closer the species, the more amino acid sequences will be shared.
Additional information like analysis of fossil record, genetic and molecular evidence,
comparative genomics, understanding of population structure and migration may help.
Mutation 6.1 How does mutation introduce new alleles into a population?
6.1.1.a – explain how a range of mutagens operate, including but not limited to:
– electromagnetic radiation sources
Mutation: random change to DNA that cannot be predicted or predict which gene will be
affected or how it will be affected. Usually has no effect on organisms but can result in a
phenotypic change to the individual.
Ionising radiation, such as x-rays, gamma rays, alpha and beta particles can damage DNA,
causing mutations through energy that cause electrons to be removed from atoms. These may
lead to birth defects or cancer. UV radiation can lead to skin cancer.
It can cause mutations DIRECTLY, where the sugar phosphate backbone breaks, or the
nitrogenous base changes so it does not pair with the complementary base. Or it can cause
mutations INDIRECTLY, where other molecules in the cell are ionised so free radicals produced
can join with other molecules to form compounds that damage DNA. Eg. H2O2, hydrogen
peroxide.
6.1.1.b
– chemicals
6.1.1.c
– naturally occurring mutagens
Can be from a Non-Biological Origin: heavy metals such as arsenic, nickel, cadmium, some
ionising radiation and chemicals in charred food.
Can be from a Biological Origin: various toxins produced by living organisms, like alkaloids
produced by plants (bracken ferns). Some viruses like the bacterium helicobacter pylori can
cause mutations.
6.1.2.a – compare the causes, processes and effects of different types of mutation, including but
not limited to:
– point mutation
⥤ Change to a single base in DNA heavily alters how the protein encoded by a gene
functions since its function depends on its shape
⥤ The interactions of surrounding amino acids determines its shape
⥤ Amino acid change = protein shape change
BASE SUBSTITUTION:
○ One base is replaced/changed to another due to potential copying error
○ Change in amino acid sequence
BASE DELETION:
○ Removal of a single nucleotide from a DNA sequence
BASE INSERTION:
○ Addition of a single nucleotide into a DNA sequence
6.1.2.b
– chromosomal mutation
6.1.3 – distinguish between somatic mutations and germ-line mutations and their effect on an
organism
6.1.4 – assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of
mutation
CODING MUTATIONS
● Sometimes has significant impact, sometimes does not
1. Missense Mutation: base substitution mutation -> wrong encoded amino acid in
polypeptide sequence
2. Nonsense Mutation: point mutation -> STOP mutation inserted into polypeptide -> non
functional -> protein synthesis unable to work
3. Silent Mutation: base substitution mutation -> results in same amino acid in polypeptide
-> no real/observable impact
6.1.5 – investigate the causes of genetic variation relating to the processes of fertilisation,
meiosis and mutation
Cause of New alleles combined > results In crossing over & random In CODING region of gene,
Genetic in a blend of genetic segregation > gametes produced polypeptide may function
Variation information ; half from each with new chromosome differently > changed gene is a
parent. combinations > Nondisjunction may new allele.
Natural selection may increase add/remove a chromosome. Due to Increases or decreases gene
the chances of better ‘fit’ random distribution of new genetic pool. Abnormalities cause DNA
parents producing gametes. information, diversity occurs. changes in gene pool.
6.1.6 – evaluate the effect of mutation, gene flow and genetic drift on the gene pool of
populations
Gene Flow: when alleles are added or removed from a gene pool due to the migration of
fertile individuals/gametes from one population to another.
→ The higher gene flow between two populations, the less likely the two populations will
evolve into two species
→ Factors that may affect gene flow: mobility/movement of gametes (higher mobility =
higher chance of gene flow), physical or behavioural barriers
→ How barriers restrict gene flow:
↪ geographical isolation means that two populations may be too far apart for
mating
↪ hybrid infertility means that a hybrid offspring may be infertile due to the parent
genotype having different diploid numbers (chromosomes may not pair correctly
during meiosis)
↪ temporal isolation means that interbreeding is unlikely as the species may breed
at different times of day (even if they are in the same geographical range)
↪ behavioural isolation, where courtship rituals may attract only specific species
that may prevent mating with other species
Genetic Drift: when, by chance, unpredictable events change the allele frequency from one
generation to the next. It occurs more easily and heavily on smaller populations.
→ Not related to natural selection as it is random and has no involvement with the “fittest”
species.” It also does not necessarily lead to adaptations to specific environmental
conditions
→ Events that can lead to Genetic Drift:
↪ Natural disasters, such as flood where only those on high ground may survive
↪ Being accidentally killed by another species that is not a predator, competitor or
pathogen
↪ Chance events in fertilisation; more offspring may die
↪ Soil being waterlogged so only some plants and animals die due to their chance
location
→ Founder Effect: when a few individuals become isolated from a larger population, they
form a new one with a different gene pool composition. They are more likely to
experience a high frequency of genetic disorders as there are less organisms affected =
highest chance of genetic drift.
→ Bottleneck Effect: when a large population reduces in size. It can be from a natural
disaster or human activities. The gene pool of the surviving population is much smaller
than the original one. The alleles in the survivors are random. Eg. cheetah population =
lead to low genetic variability.
6.2.1.a – investigate the uses and applications of biotechnology (past, present and future),
including:
– analysing the social implications and ethical uses of biotechnology, including plant and animal
examples
Positive Social & Ethical Implications Negative Social & Ethical Implications (Concerns)
○ Genetic Diversity: increase diversity of traits, ● Ownership: private & personal information
traits continue to be recombined to best may be exploited. Companies may use
survive in the environment genetic information to discriminate
○ Open-Source Directions: keeps scientific ● Intellectual Property: allows for products to
information in the public sphere for other be profited. Claims for ownership of DNA
scientists to work on projects they find sequencing in a person's body is
important complicated.
○ Reduced waste ● Expensive: only the rich can access such
○ Increased yield advanced technology
○ Sustainable future ● Long and complex procedures
○ Future generations will have best adapted ● Testing on animals = unethical (animal
traits welfare)
○ Improvements in health and nutrition ● Benefits vs harm for researching and testing
○ Reduced security threat new drugs
○ Less dependence on imports ● Backlash from religious groups on ethics (eg.
○ Traits are more safe and predictable embryos, designer babies, “killing” an
○ Farmers keep their jobs and continue to grow embryo)
crops (3rd world countries)
6.2.1.b
– researching future directions of the use of biotechnology
Biotechnology Future Directions for Use Potential Benefits
Embryo Parents can alter the embryo Parents can screen out an embryo with
Profiling profile of certain characteristics: a genetic disease before implantation
eye colour, height, intelligence. (Preimplantation Genetic Diagnosis).
Parent can choose which embryo Parents can create Designer Babies of
to implant their choice - this may enhance the
traits of future generations and
ultimately lead to an evolution of
adapted offspring.
Growing Egg IVF can be time-consuming and Parents who want to have kids may
Cells from complex. If skin cells can be used have a greater chance of producing
Human Skin to create egg cells, the technology viable embryos, making this an easier,
Cells will be increased in application. It less complicated and less
has already been successfully time-consuming procedure. They may
used in mice also be able to choose which embryo to
implant, ensuring the child has desired
features or without disease.
6.2.1.c
– evaluating the potential benefits for society of research using genetic technologies
6.2.1.d
– evaluating the changes to the Earth’s biodiversity due to genetic techniques
★ Creation of monocultures use favoured genes that wipe competitive alleles from species’
gene pools
★ Horizontal gene transfer: acquires genetic information by transfer of a member of a
different species. As traits escape into ecosystems, competition may arise to other
naturally occurring species.
Genetic Technologies 6.3 Does artificial manipulation of DNA have the potential to change
populations forever?
6.3.1 – investigate the uses and advantages of current genetic technologies that induce genetic
change
Genetic Screening and IVF Reveals specific information Diagnoses and analyses risk
(in-vitro fertilisation) about an embryo’s genetic of disease. Parents are
- Medical health to test for relieved to know their
chromosomal abnormalities embryo will not have a
or inherited disease -> genetic disorder. Allows
parents want to avoid this. infertile parents to have a
Egg fertilised outside of body child. Increase biodiversity by
– in petri dish -> inserted into introducing new alleles.
uterus of chosen birther.
6.3.2.a – compare the processes and outcomes of reproductive technologies, including but not
limited to:
– artificial insemination
6.3.2.b
– artificial pollination
6.3.3.b
– gene cloning
6.3.4 – describe techniques and applications used in recombinant DNA technology, for example:
– the development of transgenic organisms in agricultural and medical applications
- Using genetic engineering to insert one or more foreign genes into an organism’s
genome. This gives desired traits to the transgenic organism
- Eg. Aquabounty’s genetically engineered salmon has recombinant DNA featuring the
growth hormone gene from another salmon species and recombinant DNA with gene
regulators from an eel species.
- Techniques for making transgenic organisms can include bacterial plasmids,
microinjection, biolistics, electroporation and viruses.
- In bacterial plasmids, a small circular piece of DNA acts as a vector to transfer genes to
another species.
- This method of gene cloning involves creating a transgenic bacterium with the
desired gene inserted into its DNA plasmid and gene regulators.
- The bacterium undergoes fission to reproduce and more transgenic bacteria with
the desired gene are produced.
- Eg. producing human insulin in E.coli bacterium is used in large amounts for
medical purposes.
- In a bacterium there is a bacterial plasmid and bacterial chromosome. The
plasmid is removed from the bacterium and cut with a restriction enzyme. The
desired gene is cut out using the restriction enzyme. The recombinant DNA is
formed by annealing the desired gene into the plasmid using ligase. The
recombinant DNA plasmid is inserted into the bacterium.
- Restriction enzymes cut DNA at a specific sequence of bases which leaves DNA
overhangs called ‘sticky ends.’ These bond with another strand of DNA that has
complementary bases. DNA ligase then helps anneal the bases together. For example
Ecor1 always cuts between the G and A in GAATTCC.
6.3.5 – evaluate the benefits of using genetic technologies in agricultural, medical and industrial
applications
Increase crop & livestock resistance: protects against pests, diseases, extreme environmental
conditions. Eg. Bt cotton has a gene from soil bacterium that kills cotton-eating caterpillars.
Increase productivity, yield, quality of crops & livestock: eg. Golden rice has genes from daffodils
and soil bacterium to produce grains with beta-carotene for vitamin A = nutrition, health.
Produce therapeutic products: proteins, hormones, cytokines, enzymes, vaccines, antibodies for
research and medicine. Eg. insulin for diabetes that was inserted into a plasmid to transform
E.coli which is harvested and purified.
Study human diseases: Eg. Onco mice with human cancer genes can be used to predict and
develop cures for human cancer.
Create new products: Eg. blue roses are roses modified with pansy genes
6.3.7 – interpret a range of secondary sources to assess the influence of social, economic and
cultural contexts on a range of biotechnologies
Social status, financial standing: impact who can access biotechnological products and services
that are expensive. Leads to social inequity as those who benefit are high in socioeconomic
status.
Human health can be negatively impacted from genetically modified foods and gene therapy.
Any risks should be evaluated and well-advertised to consumers.
Privacy has been debated in DNA profiling and genetic sequencing as they require the storage of
people’s genetic information in databases. Without proper legislation, data can be misused.
Ethical views are shaped by one’s philosophical, cultural and religious views. Eg. genetic
screening during pregnancy and consuming GMOs can be ethically sensitive to some groups.
Informed consent is needed for all medical treatments to be ethical. Eg. Parents must be
informed of all the potential risks to them and their unborn child. Animal welfare:
biotechnology can reduce our dependence on animals, improving animal welfare but other
applications may be perceived as violating animal rights by contributing to their pain and
suffering for our benefit.
Mode of Transmission
- The path a pathogen takes to move from one host to another
- Transmission can be direct (from infected host or reservoir) or indirect (through a
carrier)
Direct Modes:
- Physical contact between host and recipient
- Sexual contact, involving exchange of bodily fluids
- Oral cavity contact through kissing
- Vertical transmission between mother and child (childbirth or breastfeeding)
Indirect Modes:
- Airborne (droplets in air) containing infectious agents produced by host
- Faecal-oral
- Waterborne (eg. cholera)
- Foodborne
- Vector transmission where an organism carries the infectious agent from host to host
7.1.1.b
– investigating the transmission of a disease during an epidemic
7.1.1.c
– design and conduct a practical investigation relating to the microbial testing of water or food
samples
7.1.1.d
– investigate modes of transmission of infectious diseases, including direct contact, indirect
contact and vector transmission
7.1.2.a – investigate the work of Robert Koch and Louis Pasteur, to explain the causes and
transmission of infectious diseases, including:
– Koch’s postulates
7.1.2.b
– Pasteur’s experiments on microbial contamination
★ Before his experiments, it was believed that living things came into being from non-living
matter: spontaneous generation. Eg. flies came from rotting meat, mice developed from
dirty clothes
★ Pasteur disproved the theory of spontaneous generation
★ People also believed in the Miasma theory which stated that diseases were transmitted
via a toxic vapour containing miasma particles
★ His experiment provides strong evidence for the Germ Theory of disease: diseases are
caused by microorganisms which are too small to see without magnification
★ Discovered that microbes were responsible for spoilage, discovered a process to kill
these microbes -> pasteurisation (now a standardised industrial practice)
Aim: To show that microorganisms present in the air cause spoilage rather than from within the
broth itself
Materials:
- 2 conical flasks
- S-shaped glass tubing
- Straight glass tubing
- 2 rubber stopped
- Distilled water
- 1 stock cube
Method:
1. Produce a filtered beef stock using 1 stock cube mixed in 250mL of distilled water and
filtering it
2. Fit the stopped onto the flasks, one with straight tubing, the other with S-shaped tubing
3. Heat each flask so that it boils for 15 minutes
4. Place 10 drops of water into the S-shaped tubing so the tubing is completely blocked
5. Leave both flasks in a warm position out of direct sunlight for several weeks
6. Every 2 or 3 days, observe and record the contents of each flask
Discussion
- Cloudiness, bubbles, fungal colonies, scum, bacterial colonies should appear in the flask
with straight tubing
- The flask with straight tubing will decay and spoil while the flask with S-shaped tubing
will remain clear
- Boiling the broth killed all microbes present, creating a sterile environment
- With straight tubing, dust and air are able to fall into the broth, introducing microbes
and allowing spoilage
- The S-tubing creates an airtight seal, stopping spoilage and showing that microbes are
present in the air
7.1.3.a – assess the causes and effects of diseases on agricultural production, including but not
limited to:
– plant diseases
7.1.3.b
– animal diseases
7.1.4 – compare the adaptations of different pathogens that facilitate their entry into and
transmission between hosts
Responses to Pathogens 7.2 How does a plant or animal respond to infection?
7.2.1.a – investigate the response of a named Australian plant to a named pathogen through
practical and/or secondary-sourced investigation, for example:
– fungal pathogens
7.2.1.b
– viral pathogens
7.2.2 – analyse responses to the presence of pathogens by assessing the physical and chemical
changes that occur in the host animals cells and tissues
Immunity 7.3 How does the human immune system respond to exposure to a pathogen?
7.3.1 – investigate and model the innate and adaptive immune systems in the human body
7.3.2 – explain how the immune system responds after primary exposure to a pathogen,
including innate and acquired immunity
Prevention, Treatment and Control 7.4 How can the spread of infectious diseases be
controlled?
7.4.1 – investigate and analyse the wide range of interrelated factors involved in limiting local,
regional and global spread of a named infectious disease
7.4.2.a – investigate procedures that can be employed to prevent the spread of disease,
including but not limited to:
– hygiene practices
7.4.2.b
– quarantine
7.4.2.c
– vaccination, including passive and active immunity
7.4.2.d
– public health campaigns
7.4.2.e
– use of pesticides
7.4.2.f
– genetic engineering
7.4.3.a – investigate and assess the effectiveness of pharmaceuticals as treatment strategies for
the control of infectious disease, for example:
– antivirals
7.4.3.b
– antibiotics
7.4.4 – investigate and evaluate environmental management and quarantine methods used to
control an epidemic or pandemic
7.4.5.a – interpret data relating to the incidence and prevalence of infectious disease in
populations, for example:
– mobility of individuals and the portion that are immune or immunised
7.4.5.b
– Malaria or Dengue Fever in South East Asia
7.4.6 – evaluate historical, culturally diverse and current strategies to predict and control the
spread of disease
7.4.7.b
– smoke bush in Western Australia
Module 8: Non-infectious Disease and Disorders
8.1.1.a – construct and interpret negative feedback loops that show homeostasis by using a
range of sources, including but not limited to:
– temperature
8.1.1.b
– glucose
8.1.2.a – investigate the various mechanisms used by organisms to maintain their internal
environment within tolerance limits, including:
– trends and patterns in behavioural, structural and physiological adaptations in endotherms
that assist in maintaining homeostasis
Causes and Effects 8.2 Do non-infectious diseases cause more deaths than infectious diseases?
8.2.1.a – investigate the causes and effects of non-infectious diseases in humans, including but
not limited to:
– genetic diseases
8.2.1.b
– diseases caused by environmental exposure
8.2.1.c
– nutritional diseases
8.2.1.d
– cancer
8.2.2.a – collect and represent data to show the incidence, prevalence and mortality rates of
non-infectious diseases, for example:
– nutritional diseases
8.2.2.b
– diseases caused by environmental exposure
8.3.1.b
– diseases caused by environmental exposure
8.3.2 – investigate the treatment/management, and possible future directions for further
research, of a non-infectious disease using an example from one of the non-infectious diseases
categories listed above
8.4.1.b
– genetic engineering
Technologies and Disorders 8.5 How can technologies be used to assist people who experience
disorders?
8.5.1.a – explain a range of causes of disorders by investigating the structures and functions of
the relevant organs, for example:
– hearing loss
8.5.1.b
– visual disorders
8.5.1.c
– loss of kidney function
8.5.2.a – investigate technologies that are used to assist with the effects of a disorder, including
but not limited to:
– hearing loss: cochlear implants, bone conduction implants, hearing aids
8.5.2.b
– visual disorders: spectacles, laser surgery
8.5.3.c
– loss of kidney function: dialysis
8.5.4 – evaluate the effectiveness of a technology that is used to manage and assist with the
effects of a disorder