Biology HSC 2020 Notes

MODULE 5: Heredity
Inquiry question 1: Reproduction
Types of Reproduction
Asexual
★ Generates offspring that are genetically identical to the
single parent. It doesn’t involve the fusion of gametes. The
parent divides by fission into two or more individuals or cells.
● Generally occurs in plants and small bacteria
● Types:
- Budding:
Offspring grows from the parent & then separates
- Spores:
Many offspring
- Binary Fission
Makes a copy of itself and splits

Advantages Disadvantages

Less time spent No genetic variation

finding a mate

Courtship

Sexual
★ Two parents contribute to the
genetic information to produce unique offspring. The
gametes fuse at fertilisation to form a zygote (fertilised egg)
- Internal
Sperm and egg unite inside the female’s body
- External
Gametes unite outside the female's body
Advantages Disadvantages

Genetic Variation Takes more time &

energy

Better chance of Requires 2

survival individuals

★ Fertilisation: The union of male and female gametes.

★ Oviparous: Egg-laying (eg. birds)
★ Viviparous: Being born alive (eg. mammals)
★ Ovoviparity: Eggs are retained in the female (eg. snakes)

Plant Structure
★ Vascular plants: Plants consisting of specialised tubing for
transport (xylem & phloem)

★ Non-vascular plants: Don’t have a true transport system.

★ Pollination: Process required by plants for sexual

reproduction. It is the transfer of pollen from the anther to
the stigma of the same or different flower

★ Cross-pollination: Transfer of pollen from the male RO of one

plant, to the female RO of another plant.

★ Self-pollination: Transfer of pollen from the anther to the

stigma of the same flower

★ Regeneration: When the organism regrows a lost limb or can

grow a whole another organism on a cut off piece.

★ Spores: Tiny unicellular reproductive cells that are produced

in great numbers (eg. bread mould)

★ Parthenogenesis: Strategy that involves the development of

unfertilised eggs into adults. Offsprings are identical to the
female parent (eg. reptiles & some fish)

★ Vegetative Reproduction: Production of new plants from

horizontal stems, plantlets or underground roots.

★ Apomixis: Reproductive mechanism that bypasses the sexual

process and allows a plant to clone itself through seed.
Protists
★ Protists: Diverse group (currently 18 phyla) that is best
described as eukaryotic organisms which are neither true
plants, animals, or fungi. They are classified to the kingdom
Protoctista.
● May contain a single nucleus or many nuclei
● Can produce asexually and sexually:
Asexual reproduction in Protists
- Primary methods:

Sexual reproduction in Protists

- Two types:
- Syngamy
Fertilization; involves the permanent fusion of two gametes to
form a zygote.
- Conjugation
The temporary pairing of two parents, called conjugant, to
exchange their male pronuclei (sperm)

Menstrual cycle and Hormonal Activity in Women

★ Hormones: Chemical messengers that can travel in the
bloodstream.

★ Progesterone: Ovarian hormone produced by corpus

luteum. It helps to maintain the endometrium (uterine lining)

★ Estrogen: Ovarian hormone produced by corpus luteum. It

stimulates the endometrium (uterine lining) to thicken
 ★ Corpus Luteum: Structure developed after the follicle bursts
(the remains). It releases progesterone and estrogen.

★ Endometrium: Uterine lining. Where the fertilised egg

implants.

★ Follicular Phase: First half of the ovarian cycle. Characterised

by one follicle maturing. Estrogen levels rise during this
phase

★ Luteal Phase: Second half of the ovarian cycle.

Characterised by the corpus luteum producing estrogen and
progesterone.

★ Ovarian cycle: The preparation of endocrine tissues and

release of eggs

★ Menstrual cycle: The preparation and maintenance of the

uterine lining.

★ Menstruation: Where the endometrium (uterine lining)

disintegrates, resulting in the bleeding.

★ Follicle-stimulating hormone (FSH): Responsible for

stimulating follicles to grow in ovaries.

★ Luteinising hormone (LH): Rise of LH triggers ovulation and

development of the corpus luteum

★ Gonadotropin-releasing hormone (GnRH): Produced by

Hypothalamus, and triggers the pituitary gland to release
FSH and LH.

Follicular phase → Follicle fully matures → releases estrogen → causes the

endometrium to thicken → Egg secretes from the follicle (ovulation)

Luteal phase → remnants of the burst follicle form the corpus luteum → releases
progesterone & estrogen → causes the endometrium to thicken and stabilise.
Corpus luteum later disintegrates → causes a decrease in progesterone & estrogen
→ triggering menstruation

Hormonal Activity
Inquiry question 2: Cell Replication
Cell Replication
★ It is the process of production to identical replicas of DNA
from one original DNA molecule

Key Terms
★ Somatic Cell: Any cell forming the boday organism (anything
but sex cells)

★ Gamete: Organism’s reproductive cells

★ Haploid: When the cell has half the number of chromosomes

★ Diploid: Cell that has paired chromosomes, one from each

parent

Cell Cycle

G1 Phase
 - The time during which the cell makes more proteins so that it
can grow to its proper size.
- Also when the cell makes more ribosomes (organelles that
make proteins).

Synthesis (S) Phase

- The time during which the cell copies its DNA in preparation
for mitosis.
- Also the time when the cell produces a lot more
phospholipids (molecules that make up the cell membrane)

G2 Phase
- The time during which a cell replicates its organelles in
preparation for mitosis.
- The G2 to mitosis transition is the last checkpoint before the
cell commits to entering mitosis.

G0 Phase
- Can occur right after mitosis and right before G1 phase, or a
cell in G1 phase can enter G0 phase.
- Entry into G0 is known as leaving the cell cycle.
- Cells that mature to become highly specialised cells are said
to differentiate.
→ Cells exit the cell cycle and enter G0 in order to differentiate.

Stages of Mitosis

Interphase DNA replication; Chromosomes not visible

Prophase Nuclear membrane starts to divide; Chromatids
starts to condense; Spindles form
Metaphase Chromosomes line up in the centre; Nuclear
membrane dissolved
Anaphase Spindle fibres pull apart chromosomes
Telophase Chromosomes completely pulled apart; 2 nuclear
membrane start to form
Cytokinesis Final split at the cytoplasm

Cell Replication

- Double helix, like a twisted ladder

- The subunits of DNA → Nucleotides, each consisting of a phosphate, sugar
and nitrogenous base.
- There are four types of nitrogenous bases: adenine (A),
cytosine (C), guanine (G) and thymine (T).
- A bonds to T(2 hydrogen bonds), and C to G (3 HB)
- A and G are purine bases (double ringed)
- C and T are pyrimidine bases (single ringed).
- These bases make up the genetic code.
DNA Replication
1. DNA Gyrase → loosens up the DNA to unwind and separate
2. DNA Helicase → carries out the process of DNA unwinding
3. DNA Polymerase → causes the free-floating nucleotides in the
nucleus to attach to the nucleotides on each strand.
- Polymerase III: Synthesises new DNA strands, using existing
strands as a template. Nucleotides are added to a growing strand
from the 3′ end
- Polymerase I: Mainly functions in ‘editing’ – recognises and
repairs base pairing errors (exonuclease)
- Polymerase II: Editing function, but no exonuclease activity
4. Free-floating nucleotides attach to teach template strand
5. DNA Ligase → Allows the bonding between the nucleotides
happen.
6. 2 identical copies of DNA is created, each one has one
template strand
- 3’ end → Leading strand
- 5’ end → Lagging strand
Meiosis
- Cell division for the production of gametes.

★ Homologous chromosomes - Pairs of chromosomes that come from

each parent. They have the same length and amount of genes,
banding pattern, location of genes, as well as the location of
centromeres.
★ Centromere - Where two chromatids joint
★ Telomere - Tips of the chromosomes
★ Paternal Chromosomes - Chromosomes from father
★ Maternal Chromosomes - Chromosomes from mother
Phases of Meiosis

MEIOSIS I
Interphase DNA replication; Chromosomes not visible
Prophase Nuclear membrane starts to divide;
Chromatids starts to condense; Spindles form
Metaphase Chromosomes cross over and line up in the
centre; Nuclear membrane dissolved
Anaphase Spindle fibres pull apart chromosomes
Telophase Chromosomes completely pulled apart; 2
nuclear membrane start to form (diploid cells)
Cytokinesis Final split at the cytoplasm
 MEIOSIS II
Interphase II DNA preparing to split; Chromosomes not
visible
Prophase II Chromosomes starts to condense; Spindles
form
Metaphase II Chromosomes line up in the centre
Anaphase II Spindle fibres pull apart chromatids from the
chromosomes to opposite ends of the cell
Telophase II Chromatids completely pulled apart; 4 haploid
cells
Cytokinesis Final split at the cytoplasm
FEATURE MEIOSIS MITOSIS

Purpose of process Cell division for the Cell division for the
production of production, growth
gametes and repair of somatic
cells

Location in body Sex organs Somatic cells

Number of divisions 2 1
in process

Number of daughter 4 2
cells produced

Chromosome number Haploid (23 for Diploid (46 for

of daughter cells humans) humans)

Comparison of Half the number Same number

chromosomes to
parent cell

Genetic variability Yes variation No variation

produced
Inquiry question 3: DNA and Polypeptide
Synthesis
Protein Synthesis
RNA DNA

Single; Shorter; Ribose (sugar) Double; Long; Deoxyribose

(sugar)

- Two stages:
- Transcription (in the nucleus)
1. Helicase causes the DNA to unwind all the specific gene
2. RNA polymerase controls the copy being made
3. Free floating RNA nucleotides (A, U, C, G) attach to one
side of DNA (template strand)
4. The copy is called messenger RNA (mRNA)
5. The methylcap & poly A tail attaches & the mRNA leaves
nucleus via nucleus pore
- Translation (in the cytoplasm at the ribosome)
1. mRNA moves to ribosome
2. Loaded transfer RNA (tRNA) temporarily binds to the
mRNA. The mRNA is read in 3 RNA bases (codons).1
3. The tRNA with and anticodon brings a specific amino
acid
4. The peptide bond joins the amino acids together
5. The unloaded tRNA detaches from the mRNA, leaving
the amino acid
6. The amino acids in a chain is a polypeptide-chain
which folds into a protein.
Brief Glossary
★ Allele - a specific variation of a gene
★ Cell specialisation - process that occurs after cell division
where the newly formed cells are structurally modified to
perform certain tasks within the body.
★ Chromatin - the complex of DNA and protein found in
eukaryotic cells
★ Gene expression - the process by which the instructions in
our DNA are converted into a functional product, such as a
protein.
★ Mutation - a change that occurs when a DNA gene is
damaged or changed in such a way that it alters the genetic
message carried by that gene.
★ Replication fork - very active area where DNA replication
takes place

Eukaryotes and prokaryotes

★ Prokaryote - unicellular organism that lacks a
membrane-bound nucleus, mitochondria, or any other
membrane-bound organelles.
★ Eukaryote - contain a nucleus and organelles, and are
enclosed by a plasma membrane.
★ Plasmid - A plasmid is a small, circular, double-stranded DNA
molecule that is distinct from a cell's chromosomal DNA
★ Histone - little ball of protein to which the DNA wraps itself
around

Feature Prokaryotic cells Eukaryotic cells

Relative size of Smaller Larger than
genome Prokaryotes
Shape of DNA Circular, Double helix
double-stranded
Location of DNA In the cytoplasm, on In the nucleus
a chromosome
Number of DNA 1 2
molecules
Histones no yes
Genes and introns Few introns and Lot more introns
( An intron is a long exons
stretch of noncoding
DNA found between
exons (or coding and exons
regions) in a gene)

Nuclear membrane no yes

around DNA

mRNA - Carries the genetic information copied

from DNA
- Acts as a messenger between DNA and
protein production

tRNA - Molecule that helps decode a mRNA

(contains anticodon)
- Carrier of a specific amino acid to the
ribosome

rRNA - Combines with special proteins to form

ribosomes
→ Catalyzes the assembly of amino acids into protein
chains
Epigenetics
- Study of the relationships between the environment,
genomes and the phenotype

Ways in which epigenetic change may be brought about and

maintained
1. DNA modification
→ Additional methyl or acetyl group inhibit transcription of a gene
2. Histone modification
→ Additional methyl or acetyl group affects the winding of DNA around the
histone
3. Chromatin remodelling
→ Reorganisation of the histone in chromatin allows
regulation of gene expression
4. Non-coding RNA
→ Associated gene silencing overs the chromosome &
prevents it from being expression
Inquiry question 4: Genetic Variation
Key Terms
★ Variation: any differences that are visible between cells,
individual organisms, or groups of organisms of any species
caused either by genetic differences or environmental
factors
★ Genotype: refers to the alleles inherited by the offspring from
the parents. (eg. Bb - eye colour)
★ Phenotype: the visible trait inherited by the offspring from
the parents. (eg. brown eyes)
★ Homologous chromosomes - Pairs of chromosomes that come from
each parent. They have the same length and amount of genes,
banding pattern, location of genes, as well as the location of
centromeres.
★ Autosomal chromosome - a chromosome that is not a sex
chromosome.

How can variation be introduced in Meiosis?

Crossing over of homologous chromosomes
→ In prophase I into metaphase in Meiosis I
● Crossing over or synapsis is the exchange of alleles between
homologous chromosomes, resulting in a mixture of parental
characteristics in the offspring.
● This exchange causes a MIX of parental genes and
introduces genetic variation.
Independent assortment
→ In anaphase I of Meiosis I
● Random alignment of homologous chromosomes during
meiosis. This increases the number of possible combinations
of chromosomes.
● This separation of maternal and paternal chromosomes
halves the chromosome number in gametes and leads to
genetic variation, depending on which chromosome of each
pair ENDS UP IN WHICH DAUGHTER CELL.

Random segregation
→ In metaphase of meiosis II
● When the two chromosomes in meiosis are separated
randomly to the reproductive cells gametes.
● Depending on where a sister chromosome is situated at the
metaphase II plate, there is a huge range of variation that
could result in the daughter cells.
More key terms
★ Homozygous - Dominant allele combination containing two
dominant alleles and expresses the dominant phenotype
(expressed physical trait)
★ Heterozygous - Allele combination containing two different
alleles and expresses the dominant phenotype (expressed
physical trait)
★ Dominant - A gene that is expressed physical and masks the
recessive gene
★ Recessive - A gene that can be masked by a dominant gene
★ Monohybrid cross - Individual showing one trait
★ Pedigree - A diagram that depicts the biological
relationships between an organism and its ancestors
★ Punnett square - Diagram that is used to predict the
genotypes of a particular cross or breeding experiment
★ Polymorphism - Individuals having different phenotypes.

Mendel’s Explanation
• Inheritance is not a blending of characteristics.
• Inheritance is controlled by a pair of factors; one from each
parent (which we now know are
genes/alleles).
• These two factors segregate from one another when sex cells are
formed.
• Characteristics are either dominant or recessive.
• Ratios of various types of offspring from two parents were able to
be predicted using
mathematical calculations.
Medel’s Ratio
T t
T TT Tt
t Tt tt

Genotype Ratio:
TT : Tt : tt
1:2:1

Phenotype Ratio:
Tall : Short
3:1

Incomplete dominance
- Condition in which both alleles of a gene pair in a
heterozygote are fully expressed by blending them together.
For example, in the snapdragon, Antirrhinum majus, a cross
between a homozygous white-flowered plant (CWCW) and a
homozygous red-flowered plant (CRCR) will produce offspring
with pink flowers (CRCW).
Co-dominance
- Condition in which both alleles of a gene pair in a
heterozygote are fully expressed without blending them
together.
- The gene controlling human ABO blood groups has three
alleles, not just two, and they co-dominate:
→ IA and IB are not dominant over one another
→ both are dominant over IO
- The table shows the possible genotypes (alleles present) and
phenotypes (blood group)

Genotype Phenotype

IAIA, IAIO A

IBIB, IBIO B

IAIB AB

IOIO O
Mendelian Pedigrees
- Mendelian pedigrees are visual charts that show familial
lineages and relationships.
- Used to track inherited traits and genetic disorders, and can
be used to to predict the likelihood of offspring having
inherited traits or genetic disorders.

→ Pedigree Patterns
- Search the pedigree and look for either of the following:
1. Two parents without the trait having offspring with the
trait. This tells you that both parents are heterozygous
and the trait is recessive. (masked in the parents).
2. Two parents with the trait having offspring without the
trait. This tells you that both parents are heterozygous
and the trait is dominant. (both pass on recessive
allele).

(Check eg. in exercise book for exemplar response to a question)

Sex-linkage
- Refers to genes that are located on the sex chromosomes.
- In humans, chromosome pairs 1-22 are referred to as
autosomal (non sex chromosomes). They contain the same
genetic information in males and females.
- The 23rd pair are the sex chromosomes. They determine the
gender of an individual.
- XX in females and XY in males.
- Most sex-linked characteristics are found on the X
chromosome and are recessive.

Single Nucleotide Polymorphism (SNP)

★ A typing error in DNA, where one nucleotide is replaced by
another
- SNPs usually arise during DNA replication, where a single
nucleotide is incorrectly inserted, creating an error in the
DNA sequence at a particular location on a chromosome.
Why are SNPs useful in genetic studies?
- SNPs are important genetic markers that are currently used
to distinguish individuals and to identify things such as
disease susceptibility in individuals.
- Variations in organisms, including SNPs, may be associated
with phenotypic change (change in appearance, enzyme
functioning, disease susceptibility or response to drugs).
- Most SNPs occur in non-coding regions of DNA and do not
lead to observable differences.
Inquiry question 5: Inheritance Patterns
DNA Technologies
DNA Sequencing
- Process of determining the precise order of nucleotides
within a segment of DNA.
- Can be used to decide if a sample came from a particular
person, or to identify the parents of a child
Process of DNA sequencing
- Preparation phase
1. DNA is purified
2. DNA is cut into pieces
3. Fragments are inserted into plasmid
4. The plasmid into bacteria
5. The bacteria replicated and multiplies the DNA
fragments
- Sequencing Steps
1. Strand separation (separates the DNA)
- Heating (up to about 90ºC) the DNA disrupts the
hydrogen bonds so the complementary and template
strand can be separated)
2. Primer Annealing (joins primer at the starts to join the
nucleotides on the strand)
- Cools the DNA quickly so the primer can be attached
and the nucleotides can join the strand
3. Extension (DNA polymerase brings free floating
nucleotides and attaches it to the strand)
- DNA polymerase assembles new DNA chains using the
4 DNA building blocks to join up to complementary
base pairs
4. Termination (stops the joining of more nucleotides)
- Add a different fluorescent colour dye to some of the
A, T, C and G’s which stops the joining of more
nucleotides

● In a sequencing reaction, many strands are sequenced

simultaneously, DNA chains of every length are produced
 - Capillary Electrophoresis
→ Sorts the DNA by length
→ Newly synthesised DNA strands are sorted from shortest to longest in an
electric field (each is one base longer than the other)
→ Drops through the laser which detects the colour

DNA Profiling
- Involves the testing of highly valuable regions of an
individual's DNA that contain short repeating sequences
called Short Tandem Repeats (STR), located in the introns
(non-coding regions)
- It tends to be used in forensic science to match samples with
those of suspects or victims of crimes.

(Male 1 is most likely to be the father)

Polymerase Chain Reaction (PCR)
- Technique used to exponentially amplify large numbers of
copies of a specific sequence of DNA
- The central paradigm to PCR is understanding that:
→ All life contains genetic material that is unique to a species
→ Individuals within a species contain unique genetic sequences
- As a result, PCR can be used to amplify unique DNA
sequences of any organism which can then be compared to
other nucleotide segments from a known source (control)
- PCR uses:
• Genetic testing
• Medical diagnosis
• DNA fingerprinting
• Cloning
• Evolutionary study
Process of PCR
- A PCR machine uses variations in temperature to control the
replication process via three steps:
1. Denaturation – DNA sample is heated to separate it into two
single strands (95°C for 1 min)
2. Annealing – DNA primers attach to the 3’ ends of the target
sequence (55°C for 1 min)
3. Elongation – A heat-tolerant DNA polymerase binds to the
primer and copies the strand of DNA (72°C for 2 min)
Gel Electrophoresis
- Lab technique used to separate mixtures of DNA based on
molecular size
- The molecules (which contain a charge) are pushes by an
electrical field through a gel
- The smaller the molecule, the faster and further they move
- Eg. → prac that we conducted in Term 4 2019
- Process:
1. DNA is extracted
2. PCR isolation and amplification of DNA
3. DNA is added to the gel walls
4. Electric Current applied to the gel
5. DNA bands are separated by size
6. DNA bands are stained

Genetic Sequencing
- Process by which the exact sequence of nucleotides in
chromosome or gene is determined.
- Special versions of the four nucleotides, called
chain-terminating nucleotides (ddATP, ddTTP, ddCTP, ddGTP),
are each labelled with a different colored fluorescent marker.

Conservation Genetics
- Application of genetics to preserve species through
maintaining variation within populations so that they are
capable of coping with environmental change
- When the significant majority of individuals have the same
alleles, the population has low genetic diversity.
- When there are multiple alleles of multiple genes within a
population, it has high genetic diversity.
Minimum Viable Population (MVP)
- Ecological threshold that indicates the smallest number of
individuals in a species or population capable of surviving in
the wild for an ongoing amount of time
- Small populations are more susceptible to genetic drift than
large population
- Genetic drift can cause problems as it occurs through
chance, unlike natural selection, where individuals with
favourable alleles survive and pass on these traits

Human Genome Project (HGP)

- Was a international effort to decode the entire sequence of
the human genome. Complete in 2003
-
 MODULE 6: Genetic Change
Inquiry question 1: Mutations
Types of Mutations
Point Mutation:
★ A single nucleotide variation
- A point mutation is a single nucleotide variation. Although
small, these mutations can have a significant effect on
phenotype if they occur within the exon of a gene, or in an
intron where they affect gene expression.

How point mutations occur:

- Insertion:
→ Frame shifts “shifts the reading of the protein”
- Substitution
→ Point mutation “no change to where reading occurs”
- Deletion
→ Frame shift
Changes in proteins (phenotype) due to point mutations:
● Nonsense mutations
- Change an amino acid to a stop codon.
- This has a very noticeable effect on a protein, as it cuts
it short.
● Missense mutations
- Point mutations that result in an amino acid change.
- The functionality of the resulting protein is determined
by whether or not the replacement amino acid is the
same type as the original.
 ● Silent mutations
- Changes in the DNA sequence that do not cause a
change in amino acid, because the new codon codes
for the same amino acid
- It has no effect on proteins.

Frameshift Mutation:
★ The insertion or deletion of one base shifting the entire
‘reading frame’ of RNA, leading to the creation of a whole new
sequence of amino acids.
- Because mRNA bases are read in threes (triplets of bases
called codons), when a base pair is added or removed from
DNA, it shifts the reading frame and every triplet beyond that
point will be different.
Chromosomal Mutation (Block Mutation):
★ Affects DNA on a chromosomal level where a section of
chromosome is changed rather than a single nitrogenous
base.
- In chromosomal mutation, the section of chromosome that is
affected contains more than one gene which means that it
affects more than one gene.

Effect of chromosomal mutation

- Deletion:
→ Section of the chromosome is lost
- Duplication:
→ Sections of the chromosome are copied
- Inversion:
→ Section breaks off & reattaches reversed
- Translocation:
→ Section breaks off & reattaches to a different chromosome

Aneuploidy
★ Occurs when one or more extra copies of an entire
chromosome are made or an entire chromosome is
missing, leading to an abnormal number of
chromosomes in the cell.
 Examples of Aneuploidy
Genetic Disorder Cause Symptoms
Turner Syndrome Caused by having a Short stature, delayed puberty,
missing or incomplete infertility, heart defects and
X chromosome. It certain learning disabilities.
affects only females.
Down Syndrome Caused by a Distinct facial appearance,
translocation. A part intellectual disability and
of chromosome 21 can developmental delays.
break off and attach
to another
chromosome.
Klinefelter 47, XXY (or XXY) is a Males may have low
Syndrome genetic condition testosterone and reduced
caused when muscle mass, facial hair and
someone has two X body hair & produce little or
chromosomes and no sperm.
one Y chromosome

Population Genetics
Glossary:
★ Gene Flow - Individuals with different genes come into a
population and spread their alleles
★ Genetic Drift - Random events which lead to a change in
gene frequency because some individuals die or can’t
reproduce.
★ Bottleneck Effect - Sharp reduction in the size of a
population due to environmental events or human activities
(Genetic drift)
★ Founders Effect - Loss of genetic variation that occurs when
a new population is established by a very small number of
individuals from a larger population
Germ line & Somatic Mutations
Inquiry question 2: Biotechnology
★ Specialised skills (or techniques) that are applied to
living things or material derived from living things.

Biotechnological applications
Medicine
Traditional Modern

● Reproductive ● Production of human

technologies - birth
control pill and IVF.
● Antibiotics - Penicillin
● Early vaccines - Smallpox
● Drug development -
Aspirin
proteins - Insulin, human
growth
● hormone and factor ix
(clotting
● factor)
● Modern vaccines - HPV
● Gene therapy
● Stem cell research
● Tissue culture - molding a
new ear for a patient.

Industry
Traditional Modern

● Bioleaching of metals ● GMO yeast converts waste

from ores into feed and biofuel
● Foods - beer, wine. ● Bioplastics produced from
● Fabric dyes corn
● Detergents ● Languard – an enzyme
that can degrade
pesticides
Environment
Traditional Modern

● Waste treatment - sewage ● Oil degrading microbes

treatment. ● Biosensors - using
antibodies enzymes, and
other molecules

Agriculture
Traditional Modern

● Selective breeding ● Herbicide resistant crops

(artificial
● selection)
● Hybridisation of species -
produces hybrid offspring
with combined traits that
make them better suited
to their environment or
for their end use.
● Working dogs
● High-yield varieties
● Animals with useful traits -
• More lean muscle
• Increased growth rate
• Resistance to disease
• Greater milk production
• Animal cloning

Future of biotechnology
- Technological advancement is not linear but exponential. In
biology we are just at the start of the biotech revolution.
Advancement in biotechnology is three times faster than that
in computer technology. In the surprisingly near future we will
be able to change everything it means to be human. We will
be able to cure and prevent diseases, slow aging and maybe
even prevent death. It’s quite possible that we will also be
able to edit our own DNA
Inquiry question 3: Genetic Technologies
Uses & Advantages of current genetic technologies
- Use of transformed bacteria to produce, drugs, hormones,
enzymes and organic compounds (e.g. Aspartame)

- Use of transgenic plants to make proteins (e.g. transgenic

corn is used to make antibodies)

- Genetic modification of animals to increase disease

resistance, growth rate, wool quality or lean muscle mass (e.g.
transgenic salmon grow twice as fast as wild type salmon)

- Gene therapy → inserting a normal allele for a dominant trait into cells of a
person suffering from a recessive genetic condition like SCID

- RNAi (RNA interference) → a novel technique for silencing genes in a cell,

by interfering with gene expression.

- CRISPR/Cas9 (Clustered Regularly Interspaced Short Palindromic Repeats)

and (CRISPR associated enzyme 9) → another novel technique that can be
used to precisely edit DNA at any position, in a very controlled way.
Artificial Semination & Pollination
Artificial Insemination
Definition ★ Involves directly injecting
semen from a male
animal into the uterus of
a female to induce
pregnancy.
Artificial Pollination
★ Pollen is transferred
from the anthers of a
flower to the stigma of
another or same flower.

Process 1. Semen containing the 1. Removing the stamens

sperm is removed from of a flower
the male (using 2. Dusting the pollen onto
mechanical stimulation the stigma of the same
or an artificial vagina) flower or another
2. Collected semen is flower
divided into semen
straws
3. They are then chilled
and then frozen in liquid
nitrogen for long-term
storage and
transportation
4. Later, the semen straw is
thawed and placed in a
sterile artificial
insemination ‘gun’.
5. The gun is carefully
inserted into the vagina
to the cervix, where the
semen is deposited.

Outcomes - Transporting frozen sperm - Often used to produce

overcomes the problem of transporting hybrid plants.
large animals over long distances → - Increases genetic variability within
cost-effective and reduces the danger populations due to the creation of
to animals of injury in transit or hybrid species → new combinations
during mating. of alleles are introduced into the
- Many females can be gene pool of a population.
inseminated and so one male
can sire offspring with several
females.
- Because the semen can be
frozen indefinitely, a male can
still produce offspring many
years after the animal has died.
- Can also be costly, due to the
requirement for specialised
equipment
Cloning
Whole organism cloning
 ★ Method used to make an identical copy of an entire
multicellular organism.
- There are a number of approaches to whole organism
cloning, including artificial embryo-splitting in animals and
taking cuttings in plants.

Somatic cell nuclear transfer

- Usually when people use the term ‘cloning’ however, they are
referring to a process called somatic cell nuclear transfer
(SCNT).
- Used this to create Dolly the Sheep

Ethical Issues

Process of Gene Cloning

Requirements (Cell-based):
● DNA fragment containing the desired genes to be cloned.
● Restriction enzymes and ligase enzymes.
● Vectors – to carry, maintain and replicate cloned genes in the
host cell.
● Host cell – in which recombinant DNA can replicate.

Steps:

1. Isolation of DNA [gene of interest] fragments to be cloned.

2. Insertion of isolated DNA into a suitable vector to form
recombinant DNA.
3. Introduction of recombinant DNA into a suitable organism
known as host.
4. Selection of transformed host cells and identification of the
clone containing the gene of interest.
5. Multiplication/Expression of the introduced Gene in the host.
6. Isolation of multiple gene copies/Protein expressed by the
gene.
7. Purification of the isolated gene copy/protein
Restriction Enzymes
★ Enzymes that cut DNA
- They are found naturally in bacteria, which use them to cut
up viral DNA as a defence mechanism.
- Each restriction enzyme is very specific to a particular
recognition site which is usually (but not always) a six-base
palindromic sequence.
- Some restriction enzymes cut at the same place on each
strand, leaving “blunt ends” others cut at different positions
leaving “sticky ends”.

Transgenic organisms (TGOs)

★ Organism that contains a transgene → an organism into which a gene from
another species has been added.

Examples Description
Human - E. coli bacteria which have been
insulin-producing transformed by the addition of a
recombinant plasmid containing a
E. coli. human insulin gene.

AquaAdvantage® - Contains a growth hormone which

Salmon enables the fish to grow all year, instead
of just during spring and summer. In this
- It’s injected directly into a salmon
embryo cell by microinjection.

Roundup Ready® - Plants which have been transfected by

Canola the addition of recombinant T-DNA
plasmid (from an Agrobacterium)
containing a gene for resistance to the
herbicide glyphosate.
Recombinant DNA
★ Process of cutting a gene from cells of one species
and splicing them into the genome of another
species to produce novel combinations of traits.
- Often called “Genetic engineering”
Genetically modified organisms (GMOs)
★ Any organism whose DNA has been modified by gene
technology, whether or not a transgene has been inserted.
- I.e. TGOs are GMOs but not all GMOs are TGOs.

Examples of GMOs that are not TGOs

Knockout mice Researchers have inactivated,
or "knocked out", an existing
gene by replacing it or
disrupting it with an artificial
piece of DNA.

Flavr Savr® tomatoes By interfering with the

polygalacturonase mRNA, the
tomatoes stay fresh much
longer.
 MODULE 7: Infectious Diseases
Inquiry Question 1: Causes of Infectious Disease
★ Infectious Disease - Caused by a pathogen and can
be transferred from one individual to another
through either direct or in-direct contact.

Classifying pathogens
 Types of Pathogens
PATH DIAGRAM OF CLASSIFI DESCRIPTION REPRODU Example
OGEN EXAMPLE CATION CTION s
Prion Non-living - Defective form of Multiply by - Mad cow
protein molecule coming into disease
contact with
- Doesn’t contain DNA or normal prion - Jacob
RNA proteins and disease
converting
- Mostly attacks brain or them into
nerve cells infectious
prion
- Not visible with light proteins
microscope

Virus Non-living - Non-cellular Cannot - Hepatitis

reproduce B
- Contains DNA, RNA and themselves
protective coat → Must use host - AIDS
cell
- Requires a living host - Smallpox
reproductive
cell to replicate
mechanisms to
- Not visible with light make copies of
microscope itself

Bacte Living - Unicellular, prokaryotic Reproduce -

ria cells by asexual Tuberculos
reproductio is
- Cell wall surrounding n - binary
cell fission - Anthrax

- Visible with light

microscope

Protoz Living - Eukaryotic unicellular Reproduce - Malaria

oan organisms by asexual
binary -
- Usually complex life fission Giardiasis
cycle

- Visible with light

microscope
Fungi Living - Eukaryotic cells with Some - Tinea
cell wall reproduce
asexually - Thrush
- Some unicellular, most while others
are multicellular reproduce
both
sexually and
asexually

Macro Living - Eukaryotic, Either sexual -

parasi multicellular organisms or has a Tapeworm
lifecycle that
tes - Mostly arthropods or includes - Paralysis
worms both sexual tick
and asexual
- External parasites = phases
ectoparasites

- Internal parasites =
endoparasites

- Visible to naked eye

Direct transmission of infectious diseases

Person to Person - When an infected individual touches or
contact exchanges body fluids with another individual.
- This includes touching, kissing, sexual contact,
biting and contact with oral secretions or
body lesions
- Eg. Herpes, chickenpox, measles

Droplet spread - Result of droplets spray caused by talking,

coughing and sneezing
- Eg. Chickenpox, influenza, tuberculosis

Indirect transmission of infectious diseases

Airborne - Some pathogens can remain suspended in
Transmission the air for many hours outside of the body.
- They can travel long distance is an infect an
individual long after the original host has left
the area
- Eg. measles and cold viruses
Contaminated - When a surface or an object continue the
Objects pathogen is touched and the pathogen is
transferred to the mouth, nose or eyes before
washing hands

Food and - Several pathogens are transmitted as a result

drinking water of improper treatment, handling, or storage
of food and water
- Eg. Escherichia coli (Food poisoning, diarrhoea)

Animal-to-person - Because from scratch or bite from an infected

contact animal or from handling of waste.
- Eg. Rabies virus

Vector-Borne - Usually spread by blood sucking insects,

including mosquitoes, freeze, and tricks
- Eg. Malaria

Glossary
★ Virulence Factors - factors that contribute to a pathogen's ability
to cause disease.
★ Incubation period - the time from the moment of exposure to an
infectious agent until signs and symptoms of the disease appear
★ Epidemic - rapid spread of disease to a large number of people in
a given population
★ Pandemic - worldwide spread of a new disease
★ Endemic - disease that is always present in a certain population or
region eg. malaria
★ Active Carrier - harbouring the disease in their own body
★ Passive Carrier - transmitting the pathogen from person to person
on unwashed contaminated hands (in a hospital setting, for
example).
★ Vector Transmission - organism (usually an insect) that transmits a
disease from one person to another
Louis Pasteur
Swan-neck flask experiment
AIM - To demonstrate that microbes were air-borne and did not
spontaneously generate

Contributions of Pasteur
- Disproved spontaneous generation: The swan-neck flask
experiment demonstrated that microbes were airborne
- Developed world’s first attenuated vaccine: Artificially generated
vaccines for anthrax, cholera and rabies - revolutionised work in the
prevention of infectious diseases.
- Demonstrated that fermentation was caused by living organisms:
This discovery became central to alcohol production and the
understanding that microorganisms were responsible for food and
beverage spoilage.
- Pasteurisation - Involves heating liquids to high temperature to kill
microorganisms that could cause spoilage or disease.
Robert Koch
Postulates
AIM - To demonstrate that infectious diseases are caused by specific
microscopic pathogens.

Contributions of Koch
- 4 Postulates
- Demonstrated → Bacillus anthracis was causative pathogen of
anthrax & Mycobacterium tuberculosis was causative pathogen of
tuberculosis
- Confirmed → Vibrio cholerae was causative pathogen of cholera

Glossary
★ Attenuation - The reduction of the intensity of the subject
★ Pasteurisation - Involves heating liquids to high temperature to kill
microorganisms that could cause spoilage or disease.
★ Spontaneous generation - Hypothetical process by which living
organisms develop from nonliving matter
 ★ Germ Theory - States that microorganisms known as pathogens or
"germs" can lead to disease
★ Inoculation - basically being vaccinated

Diseases that impact on Agricultural Production

Plant diseases
- Typically caused by various fungi and bacteria, and can have large
scale effects on agricultural production.

Fire blight disease:

- Devastating bacterial plant disease of pome fruit (apples, pears)
worldwide.
- Found in nearly every apple producing country, except Australia
and Japan.
- Cause
Caused by the bacterium Erwinia amylovora.
- Effect
Spread through rain, wind, insects and pruning tools. → Attacks blossoms, leaves, shoots, branches,
fruits, and roots. → Infection results in tissue death and bacterial ooze droplets on infected tissue.
- Prevention
• on-farm biosecurity to prevent entry, establishment and spread of pests
and diseases.
• ensuring all staff and visitors are instructed in and adhere to on-farm
hygiene practices.

Animal diseases
- Typically caused by various viruses and bacteria
- Similarly to plant diseases, can have large scale effects on
agricultural production.

Foot and mouth disease

- Highly contagious disease of cloven-hoofed animals including
cattle, sheep, goats, and pigs
 - Cause
Caused by the foot and mouth disease virus (FMDV)
- Effect
Causes fever and blisters in the mouth of the infected animal → leads to severe production losses.
- Prevention
The virus usually clears up on its own within 10 days. Pain medication may
help to relieve symptoms.

Pathogen Adaptations
HIV
- Human Immunodeficiency Virus (HIV) weakens the immune system
and causes Acquired Immune Deficiency Syndrome (AIDS).

Adaptations of HIV
- HIV has a high replication rate and the antigen proteins on the
surface of the virus mutate rapidly which avoids the immune
systems 3rd line of defence
- The virus is also covered with glycans → carbohydrate that helps to avoid detection
by the immune system.
- HIV is able to block interferon signalling between cells → avoids the immune
system.
- The primary target cells of HIV are the T-helper lymphocytes → As a result,
communication between B-cells and cytotoxic T-cells is impaired and the immune
system weakened → leaves the host susceptible to other infections.
- Some symptoms may not present for several years → As a result, the infected person
can transmit the virus to many other people unknowingly.
 Inquiry Question 2: Responses to Pathogens
Plant Responses to Pathogens
- Plants have inherent disease-resistance strategies or adaptations.
→ These can be either passive (physical or chemical barriers) or active (recognition
of the pathogen).
- Examples of plant adaptations to deter pathogens:

PLANT FEATURE FUNCTION KIND OF ADAPTATION

Waxy cuticle coating Physical barrier that Structural/physical

the leaf and stem, keeps pathogens out
thick cell walls and
small stomata

Lignin Inhibit the entry of Structural/physical

pathogens. It is woody
tissue.

Production of toxic Breaks down chemicals Protein based chemical

chemicals, such as and promotes apoptosis
enzymes (programmed cell death)

Production of toxins, Repels insects and fungi Chemical

such as citronella,
caffeine or tannins
Passive Defences:
Physical barriers
- (1st line of defence) prevent entry:
• Cell walls contain lignin and cellulose
• Waxy epidermal cuticles
• Bark
• Stomata can be closed when signaled

Chemical barriers
- Plants lack the mobile immune cells and adaptive immune system
found in mammals. As a result, each plant cell must work
independently or in harmony to respond to invading pathogens.
- Chemical compounds in the tissues of plants can reduce fungal
and bacterial growth, and ward off vectors of viruses.
- May produce enzymes that break down pathogen-derived toxins.
- Chemical receptors on plant cells can detect the presence of a
pathogen and activate the next stage of defence

Active Defences:
Pathogen recognition
- Plants are able to recognise pathogens by detecting certain
physical and chemical signals.

Rapid active response

- Recognition of a pathogen by proteins on the surface of cells in
plants causes changes in the permeability of the plant cell
membrane.
- Allows the movement of certain ions into the cell and triggers
defence responses by activating the expression of certain genes.

Delayed active response

- Delayed active responses limit the spread of the pathogen.
- Lysozyme-like chemicals are released and have an antimicrobial
action.
 Comparison of fungi and viruses:
Fungi
- Fungal plant pathogens generally secrete enzymes that are able to
digest the plant cell wall matrix and enter via the stomata and
‘steal’ nutrients from the surrounding cells.
- They can also inhibit cellular processes (eg. photosynthesis, water
and nutrient uptake).

FEATURE DESCRIPTION

Common name Eucalyptus

Scientific name Eucalyptus globulus

Brief description Species of tall, evergreen tree mainly in southeastern Australia

Fungal pathogen Mundulla Yellows (MY)

Symptoms Progressive yellowing and dieback of foliage

Control no long term management available for Mundulla yellows-affected hosts.

Viruses
- Non-cellular; Contains DNA, RNA and protective coat; Requires a
living host cell to replicate
- Viral plant pathogens are spread via vectors due to their inability
to pass through plant cell walls.
- They can cause isolated infections or spread throughout the plant
and can inhibit cellular processes (eg. photosynthesis, water and
nutrient uptake).

FEATURE DESCRIPTION

Common name Tomato

Scientific name Solanum lycopersicum

Brief description The tomato is an edible plant

Viral pathogen Tomato spotted wilt virus (TSWV)

Symptoms Ringspots, mottling, line patterns on leaves.

Control - Avoid planting near crops infected with Tomato spotted wilt virus.
- Monitor for thrips and tomato spotted wilt symptoms.
Animal Responses to Pathogens

★ Antigen -
Any molecule that the body recognises as being foreign and
activates an immune response.

First Line of Defence

- If a microbe breaches the first line of defence then it has the
potential to become a pathogen

Physical Barriers
Cilia - Prevent microbes entering tissues.
- The mucus they produce traps microbes and other
particles

Mucous - Tiny hair-like structures (eg. on linings of airways)

membranes - Help to move mucus upwards, plus any particles or
microbes trapped in it.

Skin - Provides an external barrier, strengthened by keratin

proteins.
- It physically blocks the entry of microbial pathogens.
- It also regularly shed outer layers → removing cells and
pathogens.

pH - The acidity in the stomach (pH between 1-2) & slightly

alkaline conditions in the intestines kill many
microbes
- The skin’s acidity (due to skin oils and the sweat
glands) prevents the growth of many types of
microbes.

Normal - These bacteria and fungi are not pathogenic.

microflora - Found on the skin, in the digestive tract and vagina,
and on mucosal membranes.
- Reduce the ability of pathogens to access habitat
and nutrients.

Other fluid - Contain chemicals that harm microbes (eg. lysozyme

secretions enzymes) that help kill microbes.

Tears - Help flush particles or microbes out of the eye.

- Contains chemicals (eg. lysozyme)
Inquiry Question 3: Immunity
Second Line of Defence - Innate immune system
- The body’s innate and adaptive immune system (second and
third line of defence) protect against pathogens that have
gained entry.
- Both have the ability to distinguish ‘self’ from ‘non-self’. They
do this through the recognition of antigens on the pathogen.

Substance Why this substance is produced

produced by
infected cell

Cytokines - Chemical messengers that are produced during an

infection.
- They promote the development and differentiation of T
and B lymphocytes for the third line of defence.

Interferons - A virus-infected cell will release interferons causing

nearby cells to heighten their anti-viral defences

Chemokines - Signalling proteins secreted by cells

Heparin - Anticoagulant (blood thinner) that prevents the

formation of blood clots

Histamine - Involved in local immune responses, as well as regulating

physiological function in the gut and acting as a
neurotransmitter for the brain, spinal cord, and uterus

Serotonin - “Happy chemical” → because it contributes to wellbeing and happiness

Prostaglandins - Group of lipids made at sites of tissue damage or

infection
- Involved in dealing with injury and illness

Cells involved in chemical and physical response to infection by

pathogens
Cell type Characteristics Location

Mast cell • Blood vessel dilation Connective tissues and

• Release of heparin and mucous membranes
histamines
• Recruitment of neutrophils
and macrophages

Macrophage • Phagocytosis of pathogens Migrates from blood vessels

and cancer cells into tissues
• Antigen-presenting cell
 Natural killer • Kills tumour cells and Circulates in blood and
cells virus-infected cells migrates into tissues

Dendritic cell • Antigen-presenting cell Epithelial tissues (skin, lung

• Triggers adaptive immune and tissues of the
response digestive tract)

Monocyte • Differentiates into phagocytic Stored in spleen. Moves to

cells such as dendritic cells infected tissues through
and macrophages blood vessels

Neutrophil • Most common white blood cell Bone marrow. Migrates from
at site of trauma or infection blood vessels into tissues
• Releases toxins that kill or
inhibit bacteria and fungi
• Recruits other immune cells to
the site of infection

Basophil • Defence against parasites Produced in the bone marrow → found

• Releases histamines that in many tissues throughout the body.
cause inflammation

Eosinophil • Releases toxins that kill Produced in the bone marrow → found
bacteria and parasites in many tissues throughout the body.

→ Inflammation response
- Blood vessels around an infected area are supplied with extra
blood, making the area red and swollen.
- This leads to an increase in temperature in the region
- Mast cells release histamines in damaged tissue increasing the permeability of blood
vessels → allows phagocytes to leave the blood vessels and move into the damaged tissue.
→ Phagocytosis

- Process whereby phagocytes attack foreign substances (including

microorganisms and their toxins, other unwanted substances, and
abnormal cells) by engulfing and destroying them.
- Occurs when an organism succeeds in passing the first line of
defence, and enters deeper tissues.
- Phagocytes are not specific for any particular foreign material → it’s one of the
body’s non-specific defence mechanisms.
- Phagocytes include:
→ Neutrophils – one type of white blood cell
→ Macrophages – formed by enlargement and development of monocytes
(another type of white blood cell). Macrophages may either be ‘fixed’ or
‘wandering’
- Phagocytosis is sometimes limited because:
→ Pathogens may repel the phagocytes and thus prevent phagocytosis
→ Pathogens may escape from within the phagocyte before they are completely destroyed
→ Many phagocytes are destroyed when the infection is severe. This leads to the formation of pus,
which contains a mixture of fluid, and living/dead phagocytes, and bacteria.
→ Lymph system
- Bacteria and other microbes are picked up in the lymphatic fluid
and trapped inside lymph nodes, where they can be attacked and
destroyed by phagocytes.

→ Cell death (Apoptosis)

- Involves infected cells, or macrophages that have engulfed
pathogens undergoing apoptosis.
- In doing so → both the cell and pathogens inside die.

Third Line of Defence - Adaptive immune system

- Different from the first two lines of defence, in the following ways:
◗ It is specific.
◗ It involves a great diversity of possible responses.
◗ It has memory.
◗ It is capable of self-tolerance.

Clonal Selection Theory

- States that all the B cells and T cells for all the possible antigens
are already present in very small amounts in the immune system of
the body.
- When an antigen is present in the body, the B cell or T cell that is
specific for that antigen is activated, and then cloned so that the
antigen can be destroyed.
T-cell
★ Produced in the bone marrow and mature in the thymus gland and are
responsible for the cell-mediated immune response.
- They move to the blood, lymph nodes, spleen and tonsils.
- Each T cell has a surface receptor protein that recognises only one type
of antigen.
- Cytotoxic T cells move to the site of the infection and release chemicals
that destroy the infected cell and the antigens contained within it.
-
→ 4 main types of T-cells
1. Helper T cells:
- Each helper T cell will recognise only one type of antigen and when
it is present the helper T cell becomes activated.
- It then releases a cytokine chemical (interleukin-2) which activates
the cytotoxic T cells and B cells.
2. Cytotoxic T cells:
- They are stimulated to produce many copies of themselves.
- These activated cytotoxic T cells then move to the site of the infection, bind with the
infected cells and release chemicals that destroy the antigen-infected cell → stimulate the
inflammatory response and increase phagocytic activity.
3. Memory T cells:
- Produced at the same time as the cytotoxic T cells are specific for
the antigen that stimulates their production.
- They remain in the body so that the body can respond more quickly
the next time the same antigen enters.
4. Suppressor T cells:
- When the infection has been defeated, the suppressor T cells are
responsible for stopping the immune response.

Structure and function of MHC molecules

- Glycoprotein molecules composed of a carbohydrate molecule and a
protein molecule.
- Occur on the surface of the cells and allow the B and T cells to recognise
that they belong to the body and prevent them from attacking each
other.
- This system allows the identification of foreign cells, as these cells will
have different MHC molecules.

Types of and function of MHC Molecules

- MHCI molecules are present on all cells that have a nucleus and are
involved in the recognition of antigens by T cells.
- MHCII molecules are present only on B cells and macrophages → they are involved in the
recognition of antigens on macrophages by helper T cells and B cells → leads to the
activation of the B and cytotoxic T cells by the helper T cells.
B-cell
★ Produced and mature in the bone marrow and are responsible for the
antibody-mediated immune response
- Moved to the blood, lymph nodes, spleen and tonsils.
- Each B cell has, on its surface, its own unique antibody that will identify
only the antigen that matches it.
- Once activated, produce plasma cells that make antibodies specific to
the antigen.

Antibodies
★ Proteins, called immunoglobulins, that are produced by the plasma cells
in the antibody-mediated immune response.
- Each antibody has the shape that corresponds to the antigen that it is
specific for, and joins with that antigen to render it harmless by forming
the antigen–antibody complex.

Cell-mediated immunity:
1. Foreign material is engulfed by macrophages → display the antigen attached to their
MHCII molecules.
2. The antigen-presenting macrophages move to the lymph nodes, where
they are inspected by helper T cells that have the T cell receptor that
corresponds to the antigen being presented.
3. Helper T cells then activate the cloning of millions of cytotoxic T cells
and memory T cells that are specific for the antigen
4. The cytotoxic T cells leave the lymph nodes and migrate to the site of
the infection, where their antigen receptors bind with the antigen
displayed on the infected cell.
5. These T cells then release chemicals that destroy the cell and any
pathogens within it.
6. These chemicals also increase the inflammation and attract more macrophages → carries
out phagocytosis to help destroy the pathogens and clear up any debris.
7. Some of the cytotoxic T cells produce interferons → protecting the healthy cells around
an infected cell from viral invasion.
8. Once the infection has been defeated, the suppressor T cells release
other chemicals to stop the production and action of the cytotoxic T
cells.
9. The memory T cells produced and specific to that particular antigen remain in the body,
in the lymph nodes. On re-exposure to the same antigen-containing pathogen, they
cause the rapid production of more of the same cytotoxic T cells → prevents the body
from developing symptoms of the disease again.
Antibody-mediated immunity:
1. Antigen-presenting B cells or macrophages move to the lymph nodes.
2. They are inspected by helper T cells that have the antigen receptor that
corresponds to the antigen being presented.
3. These helper T cells release interleukin-2 to stimulate the cloning of
millions of the B cells that are specific to the antigen being presented.
4. The activated B cells produce plasma cells that remain in the lymph
nodes.
5. These plasma cells secrete antigen-specific antibodies that then move
via the blood and lymph to the infected areas.
6. The antibodies then combine with the antigens to form the
antigen–antibody complex that inactivates the pathogen or its toxin.
7. The pathogen is then destroyed in a variety of ways, depending on its
type.
8. The inflammatory response is also activated, attracting phagocytes and
leading to the clearing of the debris.
9. The memory B cells produced can lead to short-term immunity (where
antibodies are secreted for 20–30 days) or long-term immunity (where the
memory cells remain in the lymph nodes). On re-exposure to the same
antigen there is a rapid division to produce plasma cells that secrete a
large quantity of antibodies very quickly and prevent the reinfection of
the body.

Herd-Immunity
★ Form of immunity that occurs when the vaccination of a
significant portion of a population provides a measure of
protection of individual who haven’t developed immunity
Artificially Acquired immunity - Vaccination
- Prepares the host for any future challenge from a pathogen.
- Active acquired immunity → Vaccines contain cultures of
pathogens and can be living (but attenuated or weakened) or
dead. Host immune response produces antibodies in response to
antigen. Memory cells produced.
- Passive acquired immunity → Antibodies from another host
introduced into the body via serum to elicit an immune response.
No memory cells produced
Inquiry Question 4: Prevention, Treatment &
Control

3 2

Host Factors Any concurrent illness in the host may reduce the
effectiveness of the host’s defence system

Enviro/Geographical Environmental conditions may favour the

factors preservation of the pathogen in the environment.
This is especially so in countries affected by
malaria.

Societal Factors Lack of education on factors involved in an

epidemic can contribute to poor decision-making.
Poverty and lack of access to vaccines and
education is a factor in more remote
communities.

Pathogen Factors Each pathogen is different. Some are virulent and

can cause disease even when present in low
numbers, while others only do so in large no.

Preventing the spread of infectious disease

- Hygienic, Quarantine, Vaccination, Public health campaigns,
Use of pesticides, Genetic engineering
Hygiene
★ Set of practices performed to maintain good health and
minimise the spread of pathogens.
- Personal hygiene → practices that an individual performs to minimise
the risk of infection.
Eg. Frequent bathing; Handwashing with soap and water (or
sanitiser); Correct respiratory hygiene when coughing and
sneezing
- Communal hygiene → practices performed at the local level to minimise
disease spread.
Eg. Water purification; Filtration; Sewerage infrastructure
- Food hygiene → practices that prevent food poisoning.
Eg. Keeping raw and cooked foods separate; Cooking foods
for the appropriate time and temperature; Using clean water
for cooking

Hygiene practices kill pathogens → reduced risk of transfer →

reduced incidence of disease

Quarantine
★ Strict isolation imposed to prevent the exposure & spread of
disease or unwanted animals or plants.
- Prevents the entry and spread of diseases by:
1. Inspection
2. Regulation
3. Restriction of movement
4. Enforced destruction of diseased organisms
Eg. Population lockdown; closure of non-essential places;
Entire countries in lockdown during COVID-19
Vaccination
★ Process of making individuals resistant to infection caused
by specific pathogens. They are very effective in preventing
future infections.
- The immunity provided is either active or passive, dependent
on the source of the immunity.
Active immunity
- The vaccine typically contains a live-attenuated or inactivated
version of the pathogen, which therefore leads to no symptoms of
the disease.
- Leads to the production of antibodies and T and B memory cells
specific to that antigen providing long-term protection from the
disease.
- Live-attenuated examples → (measles, chickenpox vaccines)
- Inactivated examples → (poliovirus, rabies vaccines)

Passive immunity
- Involves the injection of antibodies into an individual.
- It bypasses the immune system and provides immediate
protection. However, no memory cells are produced and
protection is therefore only short-term.
- An example is the Tetanus vaccine.

Public health campaigns

★ An effort to persuade the community to engage in
behaviours that will improve their health or have them refrain
from behaviours that are unhealthy
- Example → HPV vaccination
- HPV is a common virus affecting both men and women
spread through sexual contact.
- Extensive trials demonstrated that vaccinating young women
with the vaccine significantly reduces the risk of cervical
cancer.
- As a result, a free National HPV vaccination program was
introduced in 2007 for females. In 2013, boys were included in
the free school-based vaccination program.
Use of pesticides
★ Chemicals used to prevent the spread of infectious animal
and plant pathogens and also insect vectors.
- Organophosphates are the main class of pesticides used in
Australia
- Example → Insecticide control of malaria vector
- Annually there are over 200 million new cases of malaria and
over 400,000 malaria deaths.
- The rapid generation turnover of most pathogens and insect
resistance has led to widespread pesticide resistance.

Genetic engineering
★ Involves the modification of an organism's genome, for
example by the insertion of a transgene.
- Example → Bt cotton
- The cotton plants have had a gene from a soil bacteria,
Bacillus thuringiensis (Bt) inserted into its genome.
- The gene produces a protein that kills insects. Any insect
that attempts to eat the cotton plants will ingest the toxin
and die.
- As a result, Bt cotton is very effective at killing insect pests
that both damage the plant and transmit diseases.

Antivirals
Understanding viruses
- Structure of a virus consists of an inner nucleic acid core surrounded by a
protective capsid (the outer casing of proteins). Some viruses have a 2nd
protective layer (the envelope) → derived from the cell membrane of a host
cell.
 - They require a host to reproduce as they are unable to
produce their own proteins (transcription and translation).
- There are two broad categories of viruses based on their
type of nucleic acid – DNA or RNA
- Diseases caused by DNA viruses → hepatitis B, herpes and
chickenpox.
- Diseases caused by RNA viruses → HIV/AIDS, Ebola, influenza.

Antiviral drugs
★ Kills or suppresses a virus's ability to replicate.
- Essential for human health given that new viruses continue
to emerge and old ones continue to evolve.
- Most research has focused on developing antivirals for only
a small number of diseases including HIV/AIDS, herpes,
influenza etc.

The mechanisms by which antivirals act include:

1. Inactivation of virus envelope proteins.
2. Prevention of viral attachment and entry to the host cell.
3. Prevention of viral replication.
4. Prevention of viral protein synthesis.
5. Preventing the release of new infectious virus from the host cell.

Its effectiveness
POSITIVES:
- Can be designed to target specific viral pathogens.
- They slow virus reproduction and reduce symptoms & significantly
improved life outcomes.
- Reduced death rates were associated with the use of Tamiflu® and
Relenza® during pandemics in 2009–2011.

NEGATIVES:
 - Developing safe and effective antiviral drugs is challenging as
viruses use the host cells to reproduce.
- The very high mutation rates of viruses lead to drug-resistance.
- Pharmaceutical companies (patents) that develop these
- have a monopoly on the market:
Eg. Antivirals for hepatitis C can cost $1000s despite it being
possible generically for < $250.

Antibiotics
Understanding bacteria
- Typically classified based on one of three basic shapes.
1. Spherical: Ball-like cells e.g. Streptococcus pneumonia (strep
throat)
2. Rod-shaped: Known as bacilli, e.g. anthrax
3. Spiral: Known as spirilla, e.g. syphilis

Common features

Antibiotic Drugs
- Alexander Fleming discovered penicillin, the first antibiotic,
by chance in 1928.
- Drugs (natural or synthetic) used to fight bacterial infections.
One of the most frequently prescribed medications in
medicine.
- Bactericidal antibiotics kill the bacteria by interfering with
the formation of the cell membrane, cell wall or its cell
contents,
- Eg. penicillin.
- Bacteriostatic antibiotics stop bacteria from multiplying by
- interfering with DNA replication, protein production or other
- cellular metabolic processes, e.g. amoxicillin.
 Its effectiveness
POSITIVES:
- Estimates are that 200 million lives have been directly saved from
antibiotics.
- Due to different cell structures (e.g. cell wall) bacteria are more
easily targeted than viruses

NEGATIVES:
- Only work on bacterial infections.
- Overuse can lead to multiple examples of antibiotic resistance.
- People can be allergic to antibiotics.
- Side effects → diarrhea, nausea and upset stomach.

Quarantine Methods in Epidemic & Pandemic

★ Epidemic → an outbreak of an infectious disease that spreads
rapidly among individuals in a defined area or population at
the same time. (eg Ebola epidemic between 2013-2016 in West
Africa killed over 11,000 people)
★ Pandemic → the spread of a new disease across a continent or
even worldwide. (eg. COVID-19 with over 8 million people
infected and 400k+ deaths worldwide)

Controlling disease spread in epidemics and pandemics

- Primary principle of controlling disease spread during
epidemics and pandemics is the same - to prevent infected
individuals coming in contact with non-infected individuals.
- To achieve this, a range of environmental management and
quarantine methods can be employed:

Environmental management (personal and communal):

Vaccination
- Well regulated government immunisation programs are essential in the
administration of vaccines - one of the most effective ways to control
the spread of infectious diseases.
- Government agencies across the globe collaboratively track the
movement of new virus strains and developing new vaccines annually
to minimise the disease’s impact.

Water Supply - Several highly infectious diseases have links to water (cholera and
 malaria).
- At the individual level → water can be boiled
- Communal water → treated with chlorine to kill possible pathogens.

Food - Produce can become contaminated with various microbes at multiple

sources & stages from farm to plate.
Hygiene - This includes:
• Contaminated irrigation water
• Incorrect storage
• Incorrect preparation
- Eg. In 2015, there was an outbreak of hepatitis A across Australia when
contaminated frozen berries were imported from China.

Control - Populations face significant health risks due to the crowded living
population conditions, poor healthcare, and the absence of health and sanitation
movement infrastructure.
- Multiple past outbreaks of cholera, malaria.
- Control measures:
• Supply of medical treatment, clean water, sanitation
• Limiting of movement of people in and out of the large groups.

Quarantine:
Border - Carried out at checkpoints at airports, seaports, and some mail
control exchanges
- Quarantine officers use a range of techniques (computers, X-ray
machines, surveillance, and visual inspection) at international airports,
seaports, mail exchanges and container depots

Animal - Applies to all kinds of animals from insects, fish and birds to larger
quarantine animals.
- Animals coming into Australia must spend time at specially equipped
quarantine stations to ensure that they are free of disease before being
allowed into the country.

Plant - Plants such as fruits, seeds, cuttings, as well as things made from wood
quarantine or bamboo, must be examined and if necessary, treated by Quarantine
officers, to make sure they're not carrying pests or diseases.

Human - Quarantine officers monitor reports about the health status of

quarantine passengers arriving in Australia by aircraft and shipping vessels to
ensure that they are not suffering from diseases.
- A no. of infectious diseases can be spread to other people by insects
such as mosquitoes and if allowed to get into Australia would be very
difficult to eradicate.
- All international airports in Australia have in place a surveillance
monitoring program to ensure that known insect carriers of human
disease are quickly detected and destroyed.

Incidence of Infectious Diseases

Glossary
 ★ Incidence - the number of new cases diagnosed at a given
time (usually one year)
★ Prevalence - the number of existing cases or the number of
people alive with a prior diagnosis of a disease at a given
time.
★ Mortality - number of deaths in a population during a
specific time frame (usually one year)
★ Mobility - the MOVEMENT of individuals or how easily the
pathogen spreads (e.g. via commuting, travel, trade,
migration and refugee movement).

Case Study: Dengue Fever

- Mosquito-borne viral infection found in tropical and
subtropical climates worldwide.
- The disease causes flu-like symptoms and can be potentially
lethal (severe dengue).
- Leading cause of serious illness and death among children
in South-East Asia, Africa and the Americas

Data and limitations

- Incidence of dengue fever has continued to grow in recent
decades. While in part due to increased diagnosis, the WHO
believes the actual number of reported cases is low, with
some estimates suggesting there are 390 million new
infections per year.
- Of these, 500,000 cases develop into Severe Dengue, which
results in up to 25,000 deaths annually worldwide.
- Prior to 1970, only nine countries had experienced severe
dengue epidemics.
- The number of at risk individuals is now 3.9 billion across 128
countries.
- Annually there are several thousand confirmed cases of
Dengue fever in North Queensland.
- While the mosquito vector, Aedes aegypti, is found here, it’s
believed most outbreaks begin when an infected individual
from overseas brings it into the area.
History of Disease Control
★ Epidemiology - is the study of incidence and distribution
patterns of disease that lead to its cause, management and
control.

Historical Control of the Spread Disease

The Medieval Times:
- Lack of proper diagnosis methods and techniques limited
knowledge about the causes of disease leaving a very feeble
chance of preventing it.
- Most of the treatment methods included herbal remedies.
Sometimes, doctors relied on astrology to treat their patients &
even religious reasonings
- Some doctors did not even diagnose a patient with a fear of
catching a disease himself. Thus, “doctors” had a very poor status
during early time

The Early 18th and 19th centuries:

- In 1662, John Gruant published a quantitative analysis of patterns
of disease among populations
- In 1800, William Farr added to the work by classifying disease and
reporting to health authorities and the general public.
- A more scientific approach to the study of medicine was adopted.
Scientists and medical professionals began to use observations,
carry out experiments and record their findings.
- The greatest medical development before 1850 was the discovery
of smallpox vaccine by Edward Jenner. He was, therefore, a
pioneer in preventive medicine.

Late 19th century to today:

- In 1854, John Snow conducted a famous study to discover the
cause of two outbreaks of cholera, and prevent their recurrence.
- Various public health acts have improved living conditions.
Sewage systems, clean water supplies have all helped combat
disease.
- Vaccination methods were improved and today vaccination is the
most effective method of preventing infectious diseases.
- Improved education and government campaigns have made the
public more aware of the causes of disease.
- Better diets and fresh food the year round have made people
healthier and able to fight off disease.
Cultural Strategies
- Different cultures have different understandings about
diseases and therefore different strategies to predict and
control the spread.
- This can vary between cultures, with less developed countries
often not having public health bodies to monitor and control
disease, or not having the resources for effective
management.
→ For example, some cultures believe that disease is caused wholly or in part by
supernatural forces and so seek spiritual help rather than medical.
- Examples of cultural strategies hindering the containment
include:
● African Ebola epidemic in 2013-2016: Individuals are cared for by
immediate and extended family. Many with Ebola did not seek
medical help as they did not want to die isolated from loved ones.
● Cultural practices also include burial and mourning rituals where
loved ones are in close contact with a deceased (diseased) corpse.

Current Strategies
- More recent strategies involve the use of mathematical
modelling.
- Judgements about the models and systems and how well
they help predict outbreaks and the extent to which a range
of strategies might control the outbreak.
- Modelling is used to:
● Predict future occurrences
● Simulate the effects of possible interventions.
● Increase understanding of human mobility patterns and the
impact of restrictions measures such as travel restrictions.
- Computer technologies provide fast processing capacity and
enable multiple variables to be examined concurrently.
- An example where this has been beneficial:
● 2010 Haitian cholera outbreak, where epidemic mapping was
enabled by using information from social and news media, leading
to a more rapid and targeted response.
● (or COVID-19)
Contemporary application of Aboriginal protocols
Bush Medicine
Tree oil - Used as an antiseptic to treat wounds and
infections.
- Pharmaceutical companies have determined the
active ingredients to be: terpinen. alpha-terpineol
and gamma-terpinene.

Eucalyptus - APs have long used the oils for their natural
oil antimicrobial and antiseptic properties.
- Pharmaceutical companies now mouthwash,
throat lozenges and cough suppressants based
on its ingredients

Emu bush - Uses the leaves to make an antiseptic solution

that was used to treat wounds.
- Pharmaceutical companies have found that it has
the same antibacterial qualities as established
antibiotics.
- Researchers have proposed using the plant to
sterilise artificial joints prior to surgery.

Kakadu - Is the world’s richest source of vitamin C (x50 more

plum vitamin C than oranges.
- Vitamin C is essential for the growth and repair of
all tissues.

Kangaroo - APs apply pulp of the fruit on swollen joints to

apple reduce swelling and inflammation.
- Pharmaceutical companies have found that these
species contain a steroid which is important to the
production of cortisone.
→ Cortisone prevents the release of substances in the body that
cause inflammation.

Smoke Bush
- Located Western Australia (WA → used by AP for 1000s of years for its
natural healing properties.
- Researchers have long been interested in the plant as a
potential source of treatment for various diseases (eg.
cancer and HIV.)
- It was one of four plants found to contain the active
ingredient, conocurovone, which can destroy the HIV virus in
low concentrations.
 MODULE 8: Non-Infectious
Diseases & Disorders
Inquiry question 1: Homeostasis
Glossary
★ Homeostasis: Process by which organisms maintain a
relatively stable internal environment despite changes to the
external environment.
★ Internal environment: Describes the fluid surrounding a cell
within a multicellular organism.
★ Stimulus response model: A system in which a stimulus is
detected by a receptor, which communicates with an effector
to bring about a response.
★ Negative feedback loop: A stimulus-response model in which
the response counteracts the original stimulus
★ Regulation: The maintenance of a condition of the Internal
environment within narrow limits.
★ Behavioural: Having to do with changes under the
individual's control.
★ Physiological: Having to do with the functioning of the body.
★ Glycogen: A complex carbohydrate composed of long chains
of glucose monomers
★ Glucose: A simple sugar
★ Glucagon: A hormone that stimulates the liver to convert
glucose to glycogen.
★ Insulin - Hormone produced by the pancreas that converts
glucose to glycogen

Why is homeostasis important?

Living organisms are made of cells and the chemical reactions within these
cells must function efficiently and effectively to maintain life. The reactions are
catalysed by enzymes which are sensitive to changes in their environment.
Examples include temperature and pH of the internal environment,
concentration of salts and minerals, removal of pathogens and foreign
substances. It’s essential that the internal environment be maintained at a
level that allows the optimal functioning of enzymes to ensure optimal
metabolic efficiency.
The stimulus-response model
- Within the body, if there is a change in the level of a variable
of the internal environment (a stimulus) that change is often
detected by a cell or organ (receptor).
- The receptor communicates via a control centre with another
organ or cell (an effector), which produces a response.

Negative feedback
- Homeostasis is achieved as a result of negative feedback.
- Negative feedback is a stimulus-response system in which the response
produced by the effector, directly negates the direction of the stimulus →
returns the body to normal state
 Temperature Regulation
- The body temperature of a human is constantly measured by
the hypothalamus in the brain, and maintained within very
narrow limits at about 37°C.
- If the temperature rises or falls, physiological and
behavioural negative feedback mechanisms return the body
temperature to 37°C.
★ Endotherms: Rely on physiological sources of heat to
regulate body temperature
★ Ectotherms: Rely on external sources of temperature to heat
up or cool down

→ Some examples of receptors:

Responding to Cold

Responding to Heat

Nervous System
★ Allows organisms to take in information from the
environment, and respond by passing information around
the body through a network of neural pathways.
★ Can be divided into two major subdivisions: the Central
Nervous System (CNS) and the Peripheral Nervous System
(PNS).

- Better definitions:
Neurons
 ★ Functional units of the Nervous System which carry signals
throughout the body.

The Endocrine System

★ Consists of a group of glands which secrete hormones
- Hormones are found throughout the bloodstream, and only
affect the specific target cells.

- The pituitary gland is the master gland that releases a wide

 variety of hormones, many of which regulate the function of
other glands.
- It is the size of a pea found attached to the hypothalamus of
the brain.
- It is the site where the nervous system and the endocrine
system interact and work together to maintain internal
homeostasis.

- The hypothalamus is responsible for maintaining your body’s

internal balance; homeostasis.
→ To do this the hypothalamus produces releasing and inhibiting hormones,
which stop and start the production of other hormones throughout the body that
regulate key processes, including:

● Heart rate and blood pressure

● Body temperature
● Sleep cycles

Endocrine Glands and Hormones

 ➢ Nervous vs Endocrine System

Osmoregulation
Stomata and water balance
- When the guard cell contains fluid under high pressure, it
becomes turgid and the central space opens up.
- When the guard cell loses fluid, it becomes flaccid and the
space closes.
 Inquiry question 2: Causes & Effects
Genetic Diseases
★ Disease caused due to abnormalities in genome (ie.
mutations) which impairs the normal functioning of the body
or one of its parts.
- Are usually rare and can be hereditary.

Causes
- Mutation is one of the major causes of genetic diseases.
→ Different physical and chemical entities cause deviation in the
normal functioning of genes resulting in variant genetic diseases.
- Changes in number and structure of chromosomes
- Genetic Recombination
- They are transmitted by reproduction.
- They can be minor disorders, such as myopia or serious such
as haemophilia.

Effects:
- Normal development and growth of people who are
diagnosed with genetic diseases are hampered.
- Makes a person more prone to non-genetic diseases.

Examples: (from Mod6)

Genetic Disorder Cause Symptoms
Turner Syndrome Caused by having a Short stature, delayed puberty,
missing or incomplete X infertility, heart defects and
chromosome. It affects certain learning disabilities.
only females.

Down Syndrome A part of chromosome Distinct facial appearance,

21 can break off and intellectual disability and
attach to another developmental delays.
chromosome
(translocation)

Klinefelter XXY is caused when Males may have low testosterone

Syndrome someone has two X and reduced muscle mass, facial
chromosomes and one hair and body hair & produce
Y chromosome little or no sperm.
Diseases caused by environmental exposure
★ Disease caused by factors in the environment other than
pathogens.

Causes
- Stress
- Type of intake or diet plan
- Exposure to toxins (pesticides, etc) or mutagens
- Different types of radiations (UV) and pollutants
- Overexposure to chemicals used in personal healthcare
products

Effects & Examples:

- Evokes adverse immune reactions.
- Can lead to different water borne diseases, such as
diarrhoea and cholera, which can be fatal for humans.
- Leads to respiratory disorders and diseases such as asthma,
bronchitis and in extreme cases, tuberculosis.
- Both radiations and chemicals in personal healthcare
products can cause skin diseases such as eczema, rashes,
skin lesions and sometimes, skin cancer.

Nutritional diseases
★ Diseases that occur as a result of poor diet or excesses in
diet.

Causes
- Body not getting an adequate amount of nutrients from
dietary intake.
- Inability to absorb nutrients from the dietary intake due to
some other form of health disorder.
- Body unable to eliminate unnecessary components of the
dietary intake.
Effects & Examples:
- CVD → Excessive fat intake can cause blockage in arteries causing heart
diseases.
- Diabetes mellitus → Caused due to excessive intake of glucose. Lack of
insulin to convert this excess amount of glucose into glycogen causes the
glucose to accumulate in the bloodstream causing high levels of blood
sugar.
- Scurvy → caused by the lack of vitamin C in the diet. It causes swelling of
body parts and teeth start to fall out.

Cancer
★ A disease caused by an uncontrolled division of abnormal
cells that have the potential to spread in part of the body

Causes
- Exposure to chemical or toxic compounds such as benzene,
asbestos or tobacco
- Exposure to ionizing radiations such as uranium, UV rays
from sunlight and X-ray-emitting sources.
- Invasion of pathogens such as Human papillomavirus (HPV),
hepatitis viruses B and C
- A number of specific cancers have been linked to human
genes and are as follows: breast, ovarian, skin.

Effects & Examples:

- Hair loss
- Decreased physical skills, including athletic abilities, balance,
and agility
- Loss of a body part
- Infertility, or the inability to conceive a child
- The breast cancer 1 gene (BRCA1) is a tumour suppressor
gene. Mutations to BRCA1 are associated with an increased
risk for breast and ovarian cancers.
- Skin cancer is the out-of-control growth of abnormal cells in
the epidermis, the outermost skin layer, caused by
unrepaired DNA damage that triggers mutations. These
mutations lead the skin cells to multiply rapidly and form
malignant tumors (cancerous).
Inquiry question 3: Epidemiology
3

★ Epidemiology: The study of the patterns, distribution,

prevention and causes of disease in a given population.
- The ultimate goal of the epidemiologist is, not merely to
identify underlying causes of a disease, but to apply findings
to disease prevention and health promotion.
1. Identify association between risk factors and disease
2. Helps to make future predictions about disease distribution
3. Help to shape preventative measures.

Cancer Treatments
Radiotherapy
- Involves using high doses of high energy radiation to kill
cancer cells present in a tumour.
- The radiation achieves this by damaging the DNA inside of
the cancer cells.
- By damaging the DNA, radiation prevents the cell from being
able to survive, grow or divide.
- Importantly, radiotherapy doesn’t specifically target cancer
cells. Any cell that is hit by radiation will be damaged. So
although the radiation beam is directed at the cancerous
cells, some damage to healthy cells in the surrounding tissue
is inevitable.

Chemotherapy
- Involves administering drugs which target and kill rapidly
multiplying cells.
- This is because cancer cells are known for their ability to
grow really quickly, often forming tumours.
- However, some normal, healthy cells (such as bone marrow
and hair follicle cells) also grow quickly. As a result, these
healthy cells are also destroyed by chemotherapy and this
can have a terrible effect on a patient’s health and wellbeing.
Surgery
- Used to physically remove a tumour from the body.
- Although most of the tumour is removed, it can be very
difficult to ensure that all cancer cells have been eliminated.
- On top of this, there are risks associated with any surgical
procedure, such as infection and prolonged recovery time.

Immunotherapy
- Effectively cause the body’s own immune system to fight the
melanoma (type of skin cancer).
- Two approaches are in the early stages of development and
use:
→ Use drugs called ‘checkpoint inhibitors’ that cause the immune system to
recognise and destroy melanoma cells. Cancer cells cause the immune system to
ignore them. Checkpoint inhibitors reverse this effect and have proved successful
in a number of patients.
→ Use vaccinations as a method of treatment rather than prevention. An antigen
is produced using the melanoma cells, and when injected allows the immune
system to more easily identify and destroy the melanoma cells.

How does one conduct and epidemiological study?

- Epidemiological studies should:

 - There are THREE major types of epidemiological studies:

Descriptive
- These are observational studies.
- First types of study conducted to determine the cause of a
disease.
- They provide information on the patterns of the disease
(frequency, the geographical location, the time period of
infection and population affected, ie age, gender,
occupation, socioeconomic status, etc).
- A hypothesis is proposed.

Analytical
- Another example of an observational study.
- Conducted AFTER the descriptive study is completed.
- These analytical studies are used to collect more data which
is statistically analysed to test the hypothesis.
- Morbidity (number of cases of the disease) and mortality
(number of deaths due to the disease) are two indicators that
can be used as well as incidence and prevalence.
- Examples of analytical studies include cohort studies
(studying two or more similar groups of people free of the
disease, that differ in their exposure to the cause) and
case-controlled studies (comparing people with AND without
the disease).

Intervention
- Are used to test the effectiveness of a treatment, like a
clinical trial, or a public health campaign.
- The aim is to change the behaviour of the population as a
whole to reduce the incidence of the disease.
- An example of an intervention study is an experimental study
where participants are randomly placed in two groups, where
one group receives a new drug and the other group receives
a placebo. The effect of the medication on individuals in
each group is recorded and statistically analysed.

Inquiry question 4: Prevention

 - Strategies to prevent non-infectious diseases and disorders
are important to reduce the suffering of those affected,
improve their quality of life, reduce financial costs to all
affected plus the health system as well as improve the overall
health and well being of the population.

Strategies for prevention

Education programs and health campaigns
- Health authorities and governments develop strategies
aimed at preventing the diseases that are of most concern
based on their incidence, prevalence and mortality.
- Educational programs and campaigns use strategies to
provide information and educate the population about the
effects of a disease and the risk factors that increase the
chance of developing that disease.
- A successful public health campaign has a number of key
components:
◗ an evidence base for action
◗ political commitment.
◗ partnerships between the public and private sectors
◗ communication of accurate information to healthcare
workers and the public

Example of public health campaign: QUIT campaign

- Smoking remains the leading preventable cause of death in
the Australian population.
- The QUIT campaign was developed as an educational
program and campaign to reduce the prevalence of
smoking-related diseases in the population.
- The campaign involves education to raise awareness of risk
factors, as well as legislative changes:
◗ the use of slogans such as ‘Quit for life’, ‘Quit B fit’ and
‘iCanQuit’
◗ graphic images on cigarette packets to highlight the
dangers of cigarette smoking
◗ a national helpline to support smokers in their quest to
change their behaviour and break the smoking habit

Genetic engineering
 - The ability to manipulate genes has enabled us to devise a
number of ways to prevent certain non-infectious
diseases/disorders.

Example of genetic engineering: Preimplantation genetic testing

- Pre-implantation testing involves the fertilisation of the
mother’s egg with the father’s sperm in an external
laboratory setting (IVF), the removal of a single cell from an
eight-cell embryo
- Use of genetic engineering technique known as array
comparative genomic hybridisation (aCGH) to test the cell for
the presence of the known genetic condition.
- This technique can also determine whether the embryos are
free of the genetic disease/condition or are carriers retained
for implantation.
- In this way, the genetic disease/disorder is prevented in any
offspring of the couple.
- A wide range of single-gene disorders can be tested for,
including cystic fibrosis, Huntington disease, thalassaemia
and muscular dystrophy.

Government legislation
- Legislation could be in a number of forms, to target different
aspects of the specific risk factor.
- It could increase tax (levy) on the risk factor, to deter the
purchase of products related to the risk factor.
- For example, legislation to tax alcohol and tobacco products is in
place to deter the purchase of these products.
- There is currently a push for a ‘sugar’ tax to be introduced, to
deter people from consuming too many sugary soft drinks.
- Could also restrict the places and times in which the risk
factor can be used
- Eg. a ban on alcohol consumption in certain areas and
restrictions on the operating hours of bars
Inquiry question 5: Technologies and Disorders
Ear Structure
Outer Ear
- Part that you can see from the outside and by looking into
the ear canal. It starts at the external ear and ends at the
eardrum.

Anatomy Structure Function

Pinna Fleshy, external tissue Collect and funnel sound
which consists of a flap of waves into the ear canal
cartilage

Ear canal Passage comprised of Leads sound waves to

bone and skin eardrum

Ear drum Thin membrane between Vibrates in response to

outer and inner ear sound & transfers
vibrations to the ossicles

Middle ear
- An air-filled chamber that contains the ear ossicles and the
Eustachian tube. It lies between the eardrum and the oval
window.

Anatomy Structure Function

Ossicles 3 bones → Malleus, Incus, Amplify and transmit
Stapes (MIS) vibrations from ear canal to
the oval window

Oval window Thin, flexible membrane Transmits vibrations from

the stapes to the fluid in the
cochlea

Round Thin membrane between Bulge outwards to allow for

window middle ear and inner ear equalisation of pressure in
the cochlea when the oval
window vibrates

Eustachian Connects the middle ear Equalises air pressure on

Tube to the pharynx at the both side of the eardrums
back of the throat so that it isn’t overly
stretched
Inner ear
- Located within the bone of the skull. It consists of fluid filled
chambers called the semicircular canals and the cochlea. It
extends from the oval window to the auditory nerve.

Anatomy Structure Function

Cochlea Snail-shaped, spiral Hair cells act like sound
tube filled with fluid receptors

Auditory Nerve
- Transmits nerve impulse to the brain for interpretation

Hearing Loss
- Occurs when one or more parts of the ear and/or the parts
of the brain that make up the hearing pathway do not
function normally.
- The causes of hearing loss come in many forms and can
have multiple causes with each individual having a unique
type of hearing loss.
Types of hearing loss
Treatments for hearing loss
Hearing Aids
★ Battery-operated electronic device that fits into hollow
outside the ear canal

- Amplifies sound waves within the ear canal

 - The eardrum, ossicles and cochlea must have adequate
function so that the sound can be registered and converted
into an electrochemical signal
- Benefits:
→ Relatively cheap
→ Easy to install
- Limitations
→ They amplify all sounds (including background noise) which can cause
excessive pain

Bone conduction implants

★ Medical device that transmits sound by direct conduction
through bone to the inner ear (cochlea), effectively bypassing
the outer and middle ear

- A bone conduction system consists of a small titanium

implant, abutment and sound processor.
- Used for conductive hearing loss
- Benefits:
→ Almost 100% satisfaction rate,
- Limitations
→ Local infection following the operation.
→ Highly expensive
Cochlear implants
★ Electronic devices that are used to give hearing to those who
are profoundly deaf.

- Instead of transmitting sounds waves, it converts sound into

electrical signals and directly stimulates the auditory nerve.
- Useful to people who have sustained middle ear damage or
damage to the hair cells in the middle ear.
- Benefits:
→ Provides hearing to profoundly deaf people
- Limitations
→ Requires the person to learn to interpret the sensations they receive
→ Highly expensive
→ Operation side effects (eg. Infection, drooping face, numb tongue due to nerve
damage)
The Eye
★ Complex structure that contains photoreceptors that receive
light energy from the external environment and convert it to
nerve impulses (electrical energy), which are sent via the
optic nerve to the brain, where they are interpreted as
images.
Photoreceptors in the eye
- The retina is a thin sheet of cells that contains
photoreceptor cells.
- These cells are called rods and cones. They are a type of
modified neuron (nerve cell).
- They contain light sensitive pigments that absorb light
energy. When the pigments absorb light they convert the
information into an electrochemical signal that the brain can
interpret.
- There are two types of light sensitive receptors in the retina
of the human eye:

Rods
- Responsible for night vision, and are located in the
peripheral (edge) retina.

Cones
- Responsible for colour vision and fine detail.
- They function best under daylight conditions and are mostly
concentrated in a region of the retina called the fovea.
- There are three types of cone cells:
→ Red cones
→ Blue cones
→ Green cones.
- Colour discrimination occurs through the integration of
information arriving from all three types of cones. For
example, the perception of yellow results from a combination
of inputs from green and red cones, and relatively little input
from blue cones.

The role of rhodopsin in rods

- Rhodopsin is a photosensitive pigment that generates the
electrical impulse that is transmitted to the bipolar cells, the
ganglion cells and then through the optic nerve where the
signal is interpreted by the brain.
Accommodation
★ The ability of your eyes to change focus so that objects can
be seen sharply at varying distances is called
accommodation.
- When the lens of your eye alters to make an image clear and
focused, the eye is said to be accommodated.

Distance focused eye: Close focused eye:

• ciliary muscles relaxed • ciliary muscles contracted
• suspensory ligaments tight •suspensory ligaments loosened
• lens is flattened • lens is rounded
• minimum accommodation • maximum accommodation

Visual Disorders
Refractive Errors
Myopia
★ Inability of the eye to focus on distant objects
Hyperopia
★ Inability of the eye to focus on objects that are close.

Retina Conditions
Colour Blindness
★ Inability to distinguish certain colours. It occurs when one or
more of the cone types are missing or defective to any extent.
Cataracts
- The lens of the eye is made up mostly of water and protein.
The protein is arranged to allow light to pass freely.
- Sometimes the protein clumps together clouding small areas of the lens →
This obstructs light from reaching the retina causing vision problems and is
called a cataract.
★ Defect in the eye, characterised by opacity (or translucency)
of the lens.
- The amount of visual impairment depends on how much
clouding of the lens occurs.

★ Astigmatism - common eye disorder that results from a

cornea which is not spherical. As a result, light is not
focussed on the retina the same as all planes.

Treatment for Visual Disorders

Spectacles/Contact lenses
★ Have lenses that are shaped in order to correct individual
needs, by compensating for misshapen eye lenses or
eyeballs.
- Can cause the light to bend before entering the eye so that
the image focuses on the retina
Laser surgery
★ LASIK or Lasik, commonly referred to as laser eye surgery or
laser vision correction, is a type of refractive surgery for the
correction of myopia, hyperopia, and astigmatism.

- Myopia → curvature of cornea is decreased

- Hyperopia → curvature of the cornea is increased
The technology used to prevent blindness from cataracts
- The technology used to prevent blindness from cataracts is
the replacement of the cloudy lens with an artificial
intraocular lens (IOL).
- There are three methods of cataract surgery:
→ Phacoemulsification
→ Extracapsular extraction
→ Intracapsular extraction.

The Kidney
★ Bean-shaped organ responsible for filtering the blood and
excrete excess wastes, salt and water in order to maintain
homeostasis

Structure of the Mammalian Kidney and Urinary System

- Humans have two kidneys located towards the back of the
abdominal cavity.
- A renal artery enters and a renal vein leaves each kidney.
- Each kidney releases the urine it produces into a tube called
a ureter.
- Each ureter leads to the bladder, which stores urine.
- Urine is released periodically from the bladder by a sphincter
muscle into the urethra and so into the external environment.
Nephron
★ Functional unit of the kidney that filters the blood in order to
regulate chemical concentrations and produce urine.

Bowman’s capsule
- This is a fist-like structure surrounding the glomerulus.
- The blood-filtering region of the nephron.

Glomerulus
- This is a ball of blood capillaries
- Site in the nephron where fluid and solutes are filtered out of
the blood to form a glomerular filtrate.

Kidney tubule
- Sites for the reabsorption of water and ions.
- The tubule has three parts: the proximal tubule (first part
after the Bowman’s capsule), the loop of Henle (large
U-shaped part of the tubule) and the distal tubule (empties
into the collecting duct or tubule)
- Substances are removed or added to the glomerular filtrate
(urine formation) to ensure homeostasis in the body while
excreting wastes.nephrons join to form a connecting duct
and a number of collecting ducts collect into the ureter.
 ● Osmoregulation and excretion by nephrons in the kidney are
accomplished by the production and elimination of urine.

Formation of urine
Treatments for Kidney Disorders
Dialysis
★ Technology for removing waste from the blood when diseased
kidneys are no longer able to effectively clean the blood.
- The most common type of dialysis is haemodialysis, in which
the blood is removed from the body, and circulated through
a dialyzer

Haemodialysis (External)
- Most common method of dialysis
- Dialysis machine and a special filter called an artificial
kidney, or a dialyzer, are used to clean your blood. To get
your blood into the dialyzer, the doctor needs to make an
access, or entrance, into your blood vessels. This is done with
minor surgery, usually to your arm. (The one in the diagram
above)
 - Benefits:
→ Better quality of life
→ Nurses perform treatments for the patient
- Limitations
→ Time consuming (requires a lot of equipment only available in hospitals &
person needs to be connected to the dialyser for at least 2 hrs 2-3 a week)
→ Blood issues (invasion of the individual’s blood vessels can cause blood clotting,
bleeding and infections)

Peritoneal Dialysis (Internal)

- Eg. tube with a titanium plug is placed inside the abdomen
by surgery
- The peritoneum that lines the abdominal cavity and organs
is used to infuse a glucose based solution into the
abdominal cavity where it stays for around 2 hours. The
solution is then drained out of the body.
- Benefits:
→ Provides continuous therapy, which acts more like natural kidneys
→ Needle-free treatments
→ Can allow for fewer dietary restrictions
→ Allows for travel
- Limitations
→ Runs the risk of infection/peritonitis
→ Requires responsibility and detailed training
→ Patient may gain weight

Kidney transplants
★ Replacing a damaged kidney with a healthy one from a
matching donor
- Benefits:
→ Efficient procedure (surgery takes 2-3 days and recovery is a few days)
- Limitations
→ Kidney rejection (recipient’s immune system recognises the kidney as foreign and
attacks it) → possible kidney failure
→ Immunosuppressive drugs (recipient is far more vulnerable to future infections and
cancers)
→ Long waiting lists (transplants require access to a donated organ)