Biology Year 12

Module 6- Genetic Change

Mutation
Inquiry Question: How does mutation introduce new alleles into a population?
1. How a range of Mutations operate
Mutation: A mutation is an alteration in the DNA sequence of a genome of an organism or
virus caused by incorrect DNA replication or caused by a factor Mutagen.
Mutagen: an agent that causes genetic mutation/s (a change in the DNA of a cell), meaning
the sequence of nucleotides is altered. This may in turn alter the polypeptide or protein that is
made.
Types of Mutagens
- Chemical Mutagens: chemicals that cause mutations if cells are exposed to them at a
high frequency for long periods of time. They can cause a change in DNA that alters
protein function which therefore affects cellular processes. They can be similar enough to
normal bases to be incorporated into the DNA resulting in mispairing
- EXAMPLE:
- - Ingested chemicals such as tobacco smoke, preservatives such as nitrates, and
charred foods.
- -Environmental irritants and poisons such as benzene, asbestos, pesticides such as DDT
- Naturally occurring mutagens: agents that are present at normal levels within the
environment. Can be Biological (viruses, bacteria, plants, fungi), Non-Biological (mercury
and cadmium). Examples: Mycotoxins eg. Aflatoxin B1 produced b fungi, Maternal
infection of Rubella virus during the first trimester of pregnancy can lead to congenital
rubella syndrome (CRS) in infant.
- Electromagnetic Radiation: Causes atoms to vibrate and lose electrons. This breaks
bonds, damaging DNA. For example Skin Cancer caused by UV exposure.
-

2. Compare the causes, processes and effects of different types of mutation

Mutation Cause Processes Effects

Point Mutation A mistake made during -Missense mutations Can cause the wrong
DNA replication. Occur cause a single amino protein or no protein to
due to substitutions acid change within the be formed.
protein
-Nonsense mutations Disorder= Sickle cell
create a premature ‘stop’ anemia caused by a
codon causing the missense point mutation
protein to be shortened affecting one amino acid
-Silent mutations do not in hemoglobin, changes
cause amino acid from a Glutamate to a
changes Valine.

Chromosomal Changes to a series of Deletion- often caused

Mutation bases from errors during by exposure to high heat,
nuclear division or from radiation and viruses,
mutagens. Large scale examples are Turners
changes where the Syndrome chromosomal
overall structure of the disorder where a female
chromosome is changed is born with only one X
or the entire number of chromosome
chromosomes is Duplication (insertion):
changed. extra copies of genes are
generated on a
Changes to chromosome and the
Chromosome number: effect will depend on the
Trisomy=extra size, location and
chromosome number of repeats.
Deletion= missing Example is Huntingtons
chromosome disease where there is
Polyploidy= entire excessive repeats of the
genome duplication three base sequence
‘CAG’ resulting in the
huntingtin protein
produced being
malformed, prone to
clumping in the brain.
Inversion: example=
haemophilia A where a
mutation of the clotting
egen prevents the
clotting protein from
working or be missing
Translocation:
examples seen in cases
of leukemia
Aneuploidy: Aneuploid
cells occur as a result of
chromosome breakage
or nondisjunction(failure
of homologous
chromosomes to
separate during cell
division) producing extra
or missing
chromosomes. For
example Down
Syndrome (trisomy 21)
due to nondisjunction in
autosomal (non-sex)
cells.

Frame Shift A type of point mutation Shifts the entire ‘reading Results in different
mutation caused by a base being frame’ leading to an amino acids, resulting in
inserted or deleted incorrect sequence via the production of a
insertion or deletion nonfunctional protein.
For example Crohn’s
 disease, cystic fibrosis
and some forms of
cancer

Questions:

1. Outline the series of events from stages 2 to 4 that resulted in the faulty protein
Mutation, Transcription, translation
2. Describe how a type of mutagen may have caused the changes observed in stage 2?
This mutation can be caused by chemical mutagens which can create gaps in DNA
and can insert themselves into the DNA. They can be similar enough to nitrogenous
bases that they can be incorporated during transcription resulting in adenine rather
than thymine.
3. Describe the effect caused by the mutation in stage 4 and the effect this would have
on the organism
The mutation would cause the incorrect codon sequence read by the tRNA in
translation resulting in a different amino acid being formed. This could result in a
dysfunctional protein, therefore, affecting the health of the organism

Compare the Processes and effects of Point Mutations and Chromosomal Mutations and
include examples in your answer

Point Mutation Chromosomal mutation

-Changes in a single base -Changes to a series of bases

There are 4 main processes each having
different effects
-Missense mutation results in a different
amino acid being formed which could cause
a dysfunctional protein eg. Sickle cell
anemia where the hemoglobin is not in its
normal globular shape.
-Nonsense mutations result in a premature
stop codon also causing a dysfunctional
protein
- Silent mutations cause no amino acid
change, therefore, having no effect on the
protein formed
- Frameshift mutation is where the entire
There are 5 main processes each having
different effects
-Deletion mutations where part of the
chromosome is lost which effects the
genetic makeup of the organism eg.
Turners syndrome where a female is born
with only one X chromosome
-Duplication occurs where extra copies of a
gene are generated and the effect will
depend on the size and number of repeats
that it has. Eg. Huntingtons disease where
there is a repeated base sequence resulting
in a malformed protein that tends to attach
to the brain
 frame of DNA being read is shifted which
therefore affects the protein being formed.
Eg. cystic fibrosis
-Translocation where two different
chromosomes cross over resulting in
non-homologous pairs eg. Leukemia
-Inversion: where a peice of a chromosome
snaps off rotates 180 degrees and
reattaches. This can cause the protein for
blood clotting to be malformed or missing
resulting in heamophilia A
-Aneuploidy: Where an entire chromosome
is added due to nondisjunction during
meiosis resulting in the addition of an extra
chromosome eg. Trisomy 21 (Down
Syndrome) which results in birth defects
and learning difficulties.

3. Somatic mutation vs germ-line mutations and their effect on an organism

4. Significance of ‘coding’ and non-coding DNA segments in the process of

mutation
If a mutation occurs on the coding DNA, it can cause a new allele to be produced or different
amino acid. It may also cause a silent mutation that causes no effect on the organism.
Mutations in non-coding DNA or introns can also have positive or negative effects on the
organism. It has been seen that changes to the introns within DNA can alter gene
expression and cause disease. Non-coding DNA helps to regulate the expression of the
coding sequences. This includes promoters. Promoters tell the enzyme, RNA polymerase,
where to bind the RNA to DNA which begins the transcription process. Enhances are also
found in the non-coding DNA which strengthens the RNA polymerases hold on the DNA.
Causes of genetic variation relating to the processes of fertilisation, meiosis and
mutation
 Causes of Genetic Variation: allows for evolution to occur, key to survival in an ever
changing environment
Fertilization: Union of haploid gametes to form a diploid zygote. Variation of gene
combinations. The combination of genetic material from two distinct sources creates
new gene combinations in offspring.
Meiosis: cellular division occurring twice to produce four haploid gametes. Crossing
over (prophase 1),Independent assortment (metaphase 1) and random
segregation(anaphase 2) allows for millions of unique combinations.
Mutation: any changes to DNA structure, create new alleles increasing variation,
alleles that help an individual survive to reproduce may be passed onto the next
generation while the others that hinder survival are removed from the population.
Changing genetic composition of gametes (germline mutation) leads to changed
characteristics in offspring.

Question 35 2019 exam paper:

Assess the roles of mutation, meiosis and fertilization in producing genetic diversity
within a species.
Genetic diversity is a key aspect for an organisms survival across generations as it
allows for evolution to occur in ever changing environments. Mutation alters DNA
structure either spontaneously or through mutagens, this alteration causes new
alleles to be formed which increases genetic variation as it could create a new
phenotype. They may also alter the genetic composition of gametes (germline
mutation). Unfavourable mutations will be neglected over time through generations
allowing for favourable mutations to be present in characteristics of offspring. Meiosis
contributes to genetic diversity due to the processes of crossing over during
prophase 1, independent assortment during metaphase 1 and random segregation
during anaphase 2 which lead to genetically unique haploid gametes
5. The effect of mutation, gene flow and genetic drift on the gene pool of
populations
Gene flow: The movement of alleles into, or out of, a population as a result of immigration or
emigration
Sexual reproduction: Sex can introduce new gene combinations and alter allele frequencies if
mating is assortative
Genetic drift: The change in the composition of a gene pool as a result of a chance or random event
Natural selection: The change in the composition of a gene pool as a result of differentially selective
environmental pressures
 Effect of mutation on the gene pool of populations:
- Mutation is the prime source of genetic variation and when mutations occur in
germ-line cells, they become inheritable and will pass from the parent to the
offspring.
- Mutations either introduce new alleles with new traits or remove alleles thus
eliminating traits, resulting in an increase or decrease of gene pool in a population.
- The possibility of passing a mutant gene to generations depends on whether it is
dominant, co-dominant or recessive.
- Mutations may help animals survive eg. Antibiotic resistant strains of bacteria
- Decrease in a gene pool due to mutation may turn lethal and can cause the
extinction of a certain population because of a decrease in allele number in one
population will gradually increase the possibilities of the same event to occur in the
 following generations and at some point, the population will not have enough
variation to survive.
Effect of gene flow on the gene pool populations:
- Gene flow is the transfer of genetic variation from one population to another
- Migration and pollen/seeds carried by the wind facilitate gene flow
- Gene flow brings new alleles into a population which occurred by chance and were
successful in other populations accelerating microevolution
- Gene flow can ensure fitness of a population and increase the survival rate of a
particular population

Effect of genetic drift on the gene pool of populations:

- Mechanism of evolution where allele frequencies in a population change due to
chance
- It affects smaller populations as there is a greater chance of absolutely losing alleles
in the process of evolution

Summation
Mutations - can introduce beneficial alleles into a population, enhancing its ability to cope
with change as they increase the gene pool or they can be detrimental factors that can in
the long run, reduce the gene pool, if the mutation causes issues with reproduction or
capacity for the population to survive.

Gene flow - can introduce new alleles into a population and therefore increase the gene pool
of an individual population. This is beneficial. Recombines DNA between population =
increases gene pool. HOWEVER...if migration happens across two populations, they
tend to stabilise the gene pool. Overall gene frequencies do NOT change in an overall
population.
High rates of gene flow can reduce the genetic differentiation between the two
groups, increasing homogeneity (similarities).

Final Evaluation:
Mutations, gene flow and genetic drift all significantly affect the gene pool of populations by
changing allele frequency within populations.

Biotechnology
Inquiry Question: How do genetic techniques affect Earth’s biodiversity
6. Investigate the uses and application of biotechnology (past, present and
future)
Biotechnology
Biotechnology has been used for thousands of years. Humans have selectively bred many
plants and animals and biotechnology has been used to make many types of food from
bread and beer to fermented products. Using living organisms to modify food.

Genetic Technologies
Inquiry Question: Does artificial manipulation of DNA have the potential to change
populations forever?
7. Investigate the uses and advantages of current genetic technologies that
include genetic change

CRISPR/Cas9 Other techniques

Cas9 protein is directed towards the Modular proteins interact with the DNA
target site using gRNA (Guide RNA - a in order to recognise specific base
short synthetic RNA) pairs.

An all in one vector system with multiple

genes able to be targeted. Needs a customised protein for each
gene sequence being targeted.
More efficient, precise. and highly
versatile. Less efficient and less versatile.

Faster Slower

More affordable Less affordable

 gRNA has nucleotides complementary
to the target DNA.

Genome editing: also called gene editing seeks to modify genes of living organisms to
improve our understanding of
8. Compare the processes and outcomes of reproductive technologies
Artificial pollination and Artificial insemination- covered in more detail in Module 5
Both techniques can lead to ‘monocultures’ if genetic diversity is not valued. This can have long-term
ramifications on the population such as being more susceptible to disease and environmental
pressures and dramatically reducing the gene pool. Both techniques require specialist knowledge and
equipment but artificial insemination is more so.
9. Investigate and assess the effectiveness of cloning
Cloning:
Cloning is regarded as the formation of an organism with the same genetic code as another
organism. Cloning occurs naturally in twins, etc, as well as organisms that produce asexually
eg. Bacteria or hydra. Cloning can also be carried out artificially. This includes whole animal
cloning and gene cloning.
1. Whole organism cloning- Animals are cloned using the following procedure
Animal to be cloned → Cells taken from organism (somatic cell therefore full set of
DNA) → nucleus removed →
Egg cell taken from organism → egg with nucleus removed → nucleus from animal
fused into egg → stimulated to cause division → embryo implanted into the surrogate

Cloning evaluation:

Pros of whole organism cloning Cons-whole organism cloning

- Can be used to achieve a number of - Time consuming

positive outcomes e.g. endangered
species
- It could bring back extinct species.
- Focus on desirable characteristics.
- Effective - the process works
- Expensive
- Age of clone is not the same as the
‘parent’
- Significant ethical issues
- Requires strict governance
- Behavioural aspects may vary
- Can reduce genetic diversity

Effective assessment - it is a very straightforward process with high levels of success.

2. Gene Cloning: the process of making an identical copy of a specific gene or section of DNA.
For example the production of insulin. It involves the following steps.
1. Gene cut from DNA of organism using restriction enzymes
2. Gene is pasted (inserted) into vector DNA (or a plasmid) in a process called ligation
3.Plasmid is introduced into a host cell
4.The host cell makes copies of the gene when its own DNA is replicated
PCR- Polymerase Chain Reaction
PCR is a newer biotechnology that used to make multiple copies of a gene or DNA segment. It is
different to traditional gene cloning that utilises a vector plasmid to make the copies. PCR involves a 3
step process
1. Denaturation- the DNA uncoiled and the hydrogen bonds (high temps are required)
2. Annealing- primers are attached to the DNA segment and act as markers for the nucleotides
to build the new complementary strands
3. Extension- Taq polymerase helps to build the new strand.
It is a chain reaction as every segment provides 2 copies of the targeted sequence

PCR (newer technology) Gene Cloning

No use of vector Vector such as a bacterial plasmid is used

No host organism Host organism bacteria

Possibility of contamination from unwanted Contamination less likely

genetic material during the process

Billions of copies can be produced within hours Slower than PCR

Both of these molecular technologies give scientists the means to make more DNA in different
 ways.
Applications- Therapeutic Cloning: involves creating a cloned embryo to produce embryonic stem
cells with the same DNA as the donor cell. These stem cells can be used in experiments aimed at
understanding disease and developing new treatments for disease.
10. Describe technologies and applications used in recombinant DNA technology
Recombinant DNA is formed when 2 or more DNA strands are joined together. Recombinant
DNA technology can be used to insert one gene into another as all organisms have the
same basic nucleotide codes, they just differ in sequence and codons creating different
amino acids. Recombinant DNA works by specific restriction enzymes that cut specific
sequences of DNA. Some restriction enzymes cut at the restriction site producing staggered
cuts and ‘sticky ends’ where single strand DNA overlaps and other enzymes cut forming
blunt ends. The cut-out genes are inserted into a plasmid of bacteria (glued together by DNA
ligase) and follow the process of gene cloning (mentioned previously) where the transgenic
bacteria are grown in a culture and then the wanted gene is able to be extracted. Restriction
enzymes are proteins that are found in certain prokaryotes. One of the first applications of
recombinant DNA technology was for the production of human insulin.

Recombinant DNA has many uses. Examples that cover medical, agricultural and industrial
Medical: producing useful proteins such as insulin, transgenic plants such as Golden Rice to
fix nutritional deficiencies of Vitamin A and for agriculture/industry

Example Category Genes combined Application

Transgenic Salmon Agricultural/industria Growth The gene enables the GM

salmon to grow year-round
l hormone-regulating instead of only during spring
gene from Pacific and summer (as they
Chinook Salmon usually stop growing in the
cold). The purpose of the
replaces the typical modifications is to increase
growth the speed at which the fish
grows without affecting its
hormone-regulating ultimate size or other
gene in the Atlantic qualities.
salmon Pros-Farmed Salmon
reduces threat to wild
Salmon, grow to size in
nearly half the time, meeting
demand
Cons-risk that the
transgenic fish will escape
and mingle with the wild
population, another gene
may be accidentally edited,
and potential environmental
and ecosystem impacts if
the fish reached the rivers
or ocean

Golden Rice Medical/agricultural Golden rice was Golden Rice contains

sufficient provitamin A (the
created by component needed to make
transforming rice Vitamin A) to provide the
with two entire dietary requirement
via daily consumption of
beta-carotene some 75g per day.
biosynthesis genes:
Pros- addresses the issues
psy (phytoene of Vitamin A deficiency that
 synthase) from affects millions of people
globally. Easy to grow and
daffodil ('Narcissus cheap to produce once in
pseudonarcissus') large scale production.
Cons- ethical issue of
crtI (phytoene GMOs, little research on
desaturase) from the how well the beta-carotene
will hold up when stored for
soil bacterium long periods between
Erwinia uredovora harvest seasons or when
cooked using traditional
methods, whether it poses
risk to human health.

Bacteria developed Industrial DNA of oil-munching Can be used for

Bio-remediation after oil
to clean up oil spills microbes reveal the spills.
genetic potential of Pros-could be an efficient
different bacterial way to deal with large oil
spills in aquatic
species environments, could be
safer then other techniques
Cons- still in early stages of
development. Effects may
still be unknown

Bt Cotton Agricultural/Industria Cotton genetically Genetically altering the

cotton genome to express a
l modified to contain microbial protein from Bt to
a gene (cry1Ac) of combat bollworm. The
Bt a bacterium transgene inserted into the
plants genome produces
toxin crystals that dissolves
the gut lining of certain
organisms

Pros- less pesticide use

which has economic and
environmental benefits
Cons- Bt resistant pests
limiting the usefulness of Bt
crops

Evaluate the benefits of using genetic technologies in Agricultural, medical and

industry applications
Genetically Modified Organisms are those organisms whose genomes have been altered
using genetic engineering technology.
Transgenic Organisms are specific examples of GMOs when the alteration to the genome
involves the genetic material from a different species.

11. Evaluate the effect on biodiversity of using biotechnology in agriculture

- Can disrupt the ecosystem if transgenic organisms mix with wild species
- Can reduce genetic diversity to monoculture
 - Monocultures are sometimes wanted in the agricultural industry as it eliminates
contamination from other species, however, monocultures are often more susceptible
to pests and diseases.
- Can also increase biodiversity because a new gene is being introduced, as long as it
doesn’t result in a monoculture.
12. Interpret a range of secondary sources to assess the influence of social,
economic and cultural contexts on a range of biotechnologies
Social contexts:
- Governed by needs of society
- Choices made by government- legislation
- Wealth of individuals and economic status of country
- Legal ramifications- storage of DNA, ownership etc.
- Potential for discrimination
Economic contexts:
- GM food is expensive to develop but need to be moderately priced for consumer
- GM foods are owned by big biotech companies
- Impact on small scale farmers- uneven distribution
- Greater financial benefits once established
Cultural Contexts:
- Values, religious beliefs, education of population
- Eg. what if a vegetarian was to eat a tomato with fish genes
Impact on Diversity
- Can increase diversity in the short term but lessens in the long term if modification
becomes large scale as in the case of agriculture
Benefits for society:
- Improved quality of life in the case of addressing different disorders and diseases
- Increased food supplies
- Environmental (reduced need for pesticides, being able to genetically modify
organisms to produce less waste eg. Less methane in cows in relation to climate
change)
- Possible eradication of disease and disorders
- Improved medical applications- stem cells and xenotransplant technology (the
transplantation or infusion of live cells etc from a non-human source into a human)
- Treating cancers