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Module 6: Genetic Change

In this module you will:


 explain how a range of mutagens operate
 compare the causes, processes and effects of different types of mutation
 distinguish between somatic mutations and germ-line mutations and their effect on an
organism
 investigate the causes of genetic variation
 evaluate the effect of mutation, gene flow and genetic drift on the gene pool of populations
 investigate the uses and applications of biotechnology (past, present and future)
 investigate the uses and advantages of current genetic technologies
 evaluate the benefits of using genetic technologies in agricultural, medical and industrial
applications

1
Inquiry question: How does mutation introduce new alleles into a population?
BIO12 -13.1 Mutation
13.1a. explain how a range of mutagens operate, including but not limited to:
– electromagnetic radiation sources
– chemicals
– naturally occurring mutagens

Describe the function of DNA in the human body and provide an example.
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Draw an animal cell and describe the location of DNA. Distinguish between body cells and sex
cells in your description.

Describe genetic predisposition?


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Describe a possible consequence of DNA damage.
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2
BRCA 1 is a human gene on chromosome 17 and is a tumour suppressor gene. This gene gives
instructions for making a protein that is involved the repair of damaged DNA. It inhibits the growth
of cells that line the milk ducts in the breast. If there is a mutation in this gene there is an
increased risk of certain cancers, e.g. breast cancer. There are more than 600 known mutations of
the BRCA 1 gene. There have been several studies to estimate
the probability of a mutation
in the BRCA 1 gene leading to breast cancer. Results of these
studies vary. However, it seems that for population based
studies there is approximately a 9% probability that a person
with early onset breast cancer will have a BRCA 1 mutation.
For clinic based studies, a person with a family history
of breast cancer will have a 40% probability of having a
BRCA1 mutation.

Discuss the importance of the BRCA 1 gene in normal body functioning and explain why there are
ethical issues involved with the genetic testing for the presence of the mutated form of the BRCA 1
gene.
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When a female patient receives an X-ray near her abdomen, she is often given a protective shield
for her ovaries. This contains lead, which does not allow the X-rays to pass through. Explain why
this shield is important.
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3
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In 1945, during World War II, two atomic bombs were deployed in Japan over the cities of
Hiroshima and Nagasaki. These had devastating effects. Many people died in the explosion and
many died later from radiation exposure. Those few who survived had increased likelihood of
cancer and some of their children had unusual genetic conditions.
Explain the cause of cancers in the survivors and unusual genetic conditions in their offspring.
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Many fictional books and movies have characters who, after exposure to a mutagen, have developed
desirable traits through mutations, e.g. a bite from a radioactive spider caused Peter Parker to have
mutations that altered his phenotype, allowing him to become Spider-Man. Discuss whether this
could occur in real life.
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Asbestos was commonly used in Australian construction, primarily for building insulation due to its
strong heat-retaining properties. Explain why the Australian Government has banned asbestos
from current construction use.Include a description of the mutagenesis caused by asbestos.
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4
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Differentiate UV, X-ray, and gamma radiation. Contrast their mutagenic effects on the human
genome.
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5
Explain why mutagenic radiation is typically caused by shorter-wavelength radiation types,
including ultraviolet (UV), x-ray and gamma radiation. Consider DNA's structure and explain
why ionising radiation causes mutations in DNA.

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The diagram shows gene mutation caused by UV light. Outline what is happening.

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6
In 2017, the Australian Government restricted the consumption of cigarettes in public spaces.
Explain why tobacco smoke is considered a mutagen.
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Popular vaporiser brands have marketed themselves as a safe alternative to tobacco consumption.
Assess the validity of these statements.
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7
Viruses are not made of cells. They come in
a variety of shapes, which tend to have
protein coats protecting genetic material
(DNA or RNA). Viruses do not have
ribosomes. Viruses use the cellular
machinery of a host cell to make more viral
proteins and copies of its genome. This
enables viruses to reproduce.

Outline why viruses cannot translate their own genetic material into proteins.
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The diagram above shows a virus invading a bacterial cell. Outline what happens to the viral
DNA.
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The definition of a mutagen is something that can alter an organism's DNA. Explain why
viruses can be described as mutagens.
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8
In the 1940s while working with maize, Zea mays
(called corn in the USA) Barbara McClintock
discovered the first transposons. Transposition
occurs in somatic tissue, e.g. corn kernels and
alters the colour of all descendent cells producing a
variegated colour pattern called 'Indian corn'. How
do transposons cause this effect?
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Use a case study to explain how transposons can contribute to mutagenic change in an
organism.
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9
13.1b. compare the causes, processes and effects of different types of mutation, including
but not limited to:
– point mutation
– chromosomal mutation
13.1c. distinguish between somatic mutations and germ-line mutations and their effect on
an organism (ACSBL082, ACSBL083)
Distinguish between a somatic mutation and a germ cell mutation.
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2019 Q22
Complete the table to show the differences between somatic and germ-line mutations.

Identify a teratogen
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Describe a congenital defect


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Define a stem cell.
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Describe two factors that determine the different types of stem cells.
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10
Distinguish between a totipotent, pluripotent and multipotent stem cells giving examples of each.
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Somatic mutations within a coding region of DNA in a single cell usually have very little impact on
an individual's health. Explain why.
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Outline how mutations to germ-line cells contribute to the process of natural selection.
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2019 Q15
A germ-line mutation is known to have occurred.
How is it possible that there has been no noticeable change in the phenotype of the offspring?
A. The mutation occurred in a stretch of RNA.
B. The mutation occurred in a protein-coding region.
C. The mutation occurred in a stretch of non-coding DNA.
D. The mutation did not affect the DNA sequence of any gametes.

11
Explain at least ONE type of condition caused by a point mutation in human beings. Include the
site, a description of the condition, and the symptoms exhibited by an individual.
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Complete the following table of chromosomal mutations.

Diagram

Mutation Type Non-


Disjunction

Description of
Mechanism

Description of
Caused Disorder

Explain at least ONE type of condition caused by a chromosomal mutation in human beings.
Include the site, a description of the condition, and the symptoms exhibited by an individual.

12
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The diagram shows the effect of two different mutagens on replicating DNA.

Describe components Q and R.


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Identify the type of mutation in each example and explain why both cause a frame shift.
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The diagram shows an egg and sperm of a particular species. Draw the possible genotypes of
possible different offspring.

13
Balanced structural abnormalities involve no gain or loss of genes. The genetic material has only
been rearranged. Unbalanced structural abnormalities involve gain or loss of genes.
Classify each of these types of chromosomal mutations as a balanced or unbalanced mutation.
(i) Deletion ___________________________
(ii) Duplication ___________________________
(iii) Inversion ___________________________
(iv) Translocation ___________________________

Both balanced and unbalanced chromosomal mutations can have significant impacts on an
individual. Predict which of these two categories of chromosomal mutations is likely to have
greater impacts on an individual. Provide reasoning for your prediction.
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Extension activity: Research the symptoms of cri-du-chat syndrome, which is a genetic condition
caused by a chromosome deletion of part of chromosome 5.
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Identify the difference between somatic and germ-line cells
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14
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Melanoma, linked to exposure to UV radiation, is caused by somatic point mutation. Mosaic
Down Syndrome is caused by a somatic chromosomal mutation. Explain the key differences
between these two types of mutation.
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Cystic fibrosis is a channel-affecting condition caused by a germ-line point mutation. In
comparison, Down Syndrome and Wolf-Hirschhorn Syndrome are developmental conditions
caused by germ-line chromosomal mutations. Explain the key differences between these two
types of mutation.
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Assess the short-term and long-term effects of somatic and germ-line mutations.
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15
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2019 Q15
A germ-line mutation is known to have occurred.
How is it possible that there has been no noticeable change in the phenotype of the offspring?
A. The mutation occurred in a stretch of RNA.
B. The mutation occurred in a protein-coding region.
C. The mutation occurred in a stretch of non-coding DNA.
D. The mutation did not affect the DNA sequence of any gametes.

The diagram shows the structure of normal red blood cells and sickle
shaped red blood cells. Identify the mutation involved in sickle cell
anaemia, explain how the change affects protein synthesis and
protein functioning and explain why sickle cell trait is advantageous in
some regions of the world.

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16
13.1d. assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of
mutation (ACSBL078)
Identify the key difference between exon and intron DNA segments.
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Describe when introns are removed from a sequence of nucleotides.
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This diagram shows a process that occurs in RNA.

Identify this process and describe what is happening.


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17
Human infants use the LCT gene to produce lactase.
This is an enzyme that helps to break down lactose,
the sugar found in milk. In the majority of humans,
lactase production gradually declines and then ceases
around age seven due to the gene being 'switched off.
Without lactase, consuming dairy products
(containing lactose) can lead to stomach cramps,
bloating, flatulence and diarrhoea.
Around 7500 years ago in Europe, a mutation occurred that created what is nicknamed the
LP allele. The LP allele results in lactase persistence trait (LPT}, where the lactase enzyme
continues to be produced and the LCT gene does not switch off. Research has tied this:trait
to a single base substitution in an upstream regulatory region for the LCT gene. So, if you are
one of the minority of humans (around 35%) who can drink milk and enjoy ice cream
without side effects, then you have inherited the mutant LP allele ... thus making you a 'milk
mutant'!
Describe the DNA changes associated with 'milk mutants'.
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Describe the protein changes associated with 'milk mutants'
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Describe the phenotypic changes associated with mutations to regulation of the lactase gene.
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Identify whether the mutation for 'milk mutants' in an exon or intron DNA segment.
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This mutation is nicknamed the 'LP allele'. Why is it technically incorrect to call it an allele?
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18
The diagram shows the lethal and non-lethal form of the HTT gene (Huntington gene).
Huntington's disease is a degenerative disease of the nervous system that does not
have an effect on the person until they are around 35 to 45 years old. Once deterioration
begins it is irreversible with current technologies.

Identify this type of mutation.


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Using a named example, evaluate the significance of mutations in exon and intron DNA
segments on human health and function.
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19
13.1e. investigate the causes of genetic variation relating to the processes of fertilisation,
meiosis and mutation (ACSBL078)
Fill in the blanks to revise your knowledge of crossing-over
chromosomes • different • genes • homologous • pair • variation
Crossing-over is a process that can occur between __________ chromosomes during meiosis I. Pairs
of homologous __________ align at the centre of the cell during meiosis-I. Crossing-over typically
involves the two inner chromatids of a __________ of homologous chromosomes exchanging
corresponding between the maternal and paternal copy. Crossing-over creates recombinant
chromosomes that may carry __________ alleles to the parent chromosomes. Crossing-over is one
of the ways that meiosis increases between offspring.

2018 Q29
The diagram models the process of meiosis.

Describe the process that accounts for the changes shown in the model during interphase. (2
marks)
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Explain the structure and behaviour of chromosomes in the first division ofmeiosis. Include
detailed reference to the model. (5 marks)

Explain the structure and behaviour of chromosomes in the first division of meiosis. Include
detailed reference to the model.
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20
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Explain the mechanism that contributes new alleles to a genome and explain its role in
evolution.
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The diagram shows unequal


crossing over in meiosis. Explain
what is happening in this
situation and why it causes
chromosomal abnormalities. If
crossing-over does not occur in the
typical manner, recombination
errors can occur.

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It is estimated that 44% of the human genome is repetitive DNA. Outline how this type of
mutation can occur.
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21
Two homologous chromosomes meet in the centre of a cell during meiosis-I. However, they do
not align correctly. Crossing-over results in these homologous chromosomes exchanging
different amounts of genetic material. Explain how this could cause a duplication or deletion
mutation.
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During meiosis I, errors can occur if a chromosome pairs with a non-homologous chromosome.
Crossing-over between these non-homologous chromosomes results in the recombination of
genetic material containing different genes. Explain how this can cause translocation mutations.
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Draw labelled diagrams that depict each of the two above recombination errors.

Complete the following table to differentiate between independent assortment and random
segregation.
Independent Assortment Random Segregation
When does it take place
during the meiosis cycle?

Role in Genetic Variation?

What would happen to the


genetic variety if this
mechanism did not occur?

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13.1f. evaluate the effect of mutation, gene flow and genetic drift on the gene pool of
populations (ACSBL091, ACSBL092)
Distinguish between gene pool, gene flow, and genetic drift.
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Define a gene pool and give an example
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Outline how gene flow changes gene pools.
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Identify the main factors that affect the rate of gene flow between different populations.
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2019 Q13
Genetic drift is a gradual change in:
A. the alleles of an individual due to mutation.
B. allele frequency in a population due to chance.
C. the genes of a population due to natural selection.
D. gene frequency in a population due to natural selection.
Explain why gene flow can reduce the number of differences between populations.
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23
Outline why scientists are interested in change in allele frequencies in a population's gene pool
over a number of generations.
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Outline why the size of a gene pool is important when considering the survival chances of a
population in a changing environment.
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Draw a gene pool of a frog population before and after it has experienced a bottleneck event. The
unique genes can be represented using colours or symbols.
Before After

Complete the table to summarise the three ways natural selection leads to a change in allele
frequencies in gene pools and evolution.

24
Use the diagram to explain how the founder effect is linked to
population size.

25
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CASE STUDY: Devil facial tumour disease (DFTD) is an aggressive non-viral, transmittable
parasitic cancer that affects Tasmanian Devils. It has extremely high infection and mortality
rates. Historically, Tasmanian Devils spanned
the mainland of Australia. 12,000 years ago, sea
levels rose, forming the island of Tasmania and
isolating the devil population living there.
Identify the genetic effect that occurred during
the isolation event and explain its potential
role in the success of DFTD in the Devil species.
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CASE STUDY: African cheetahs are so genetically similar that skin grafts can easily be
transplanted between individuals without the associated immunological rejection. This level of
genetic impoverishment can be traced to two
bottleneck events: approximately 100,000

26
years ago during the migration from America to Africa and approximately 12,000 years ago
during the Pleistocene mammal extinction.
Evaluate the benefits and cons of a genetically uniform animal population. In your response,
include the following vocabulary words: gene flow, mutation, genetic drift, gene pool.
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Inquiry question: How do genetic techniques affect Earth’s biodiversity?
BIO12-13.3 Genetic Technologies
13.3a investigate the uses and advantages of current genetic technologies that induce
genetic change

Describe the difference between ‘biotechnology’ and ‘genetic engineering’.


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The diagram shows the Australian short finned
eel and a reconstruction of an ancient stone
weir. Remnants of these weirs have been
found at Lake Condah, Victoria in the Budj Bim
National Heritage Landscape built by the
Gunditjmara people. Discuss why this is an
example of very early biotechnology.
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Describe an experiment you could perform to show fermentation as an example of early
biotechnology. Draw a diagram of your equipment.
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Explain why the work of Louis Pasteur and others in the mid-1800s increased scientific
knowledge and led to changes in biotechnology.
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2017 Q33
Identify TWO biotechnologies used by an early society (2 marks)
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What are TWO benefits resulting from artificial selection in a specific plant or animal? (2 marks)

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Describe the steps involved in the formation of recombinant DNA (3 marks)
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Outline the differences between DNA and RNA (2 marks)
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Describe the roles of two types of RNA in protein synthesis. (4 marks)
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The yeast S. cerevisiae cannot naturally ferment the sugar xylose. Low value biomass, such as straw
and wood fibres, contains up to 20% xylose. S. cerevisiae was modified to enable it to produce
ethanol from xylose. Information on the two species involved in making the modified S. cerevisiae is
shown in the table.

Explain why biotechnology was needed to modify S. cerevisiae. (2 marks)


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29
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Two strains of genetically modified S. cerevisiae were produced. The two strains were compared
under the same conditions. The results are shown.

Justify which of these two strains would be better to use to produce commercial quantities of
ethanol using low value biomass. In your answer, refer to information from the graph (3 marks)
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Assess the impact on society of the understanding and application of cell
biochemistry. Support your answer with reference to an industrial fermentation process.
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2019 Q20
Scientists have been able to use biotechnology to ‘cut and paste’ DNA for decades. Why would the
new CRISPR/Cas9 technology have improved the scientists’ success in cutting DNA of specific
genes?
A. Cas9 is able to combine with specific DNA.
B. Cas9 has an active site that cuts target DNA.
C. gRNA has the same nucleotides as the target DNA.
D. gRNA has nucleotides complementary to the target DNA.
2018 Q32
Identify TWO changes that have occurred in ONE species as a result of artificial selection for
agricultural purposes. (2 marks)
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(ii) Outline the use of ONE biotechnology by Australian Aboriginal peoples in ancient times. (2
marks)
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Explain an advantage and a disadvantage of EITHER the product OR process of a specific animal
biotechnology. (4 marks)
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31
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Outline how the polymerase chain reaction can be used to amplify DNA sequences. (2 marks)
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DNA can be inserted into bacterial plasmids to produce recombinant DNA. The diagrams below
show a bacterial plasmid in its original form and the recombinant plasmid after a desired gene, X,
has been spliced into a particular position. Plasmids are incorporated into bacterial hosts.

Explain how gene A and gene B could be monitored to determine which bacterial hosts have
successfully incorporated the desired recombinant DNA. (3 marks)
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For a specific strain isolation method, construct a flow chart to summarise the main steps and
products. (5 marks)

32
Explain the relationship between advances in scientific knowledge of cell chemistry and modern
uses of biotechnology. (7 marks)
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13.3b. compare the processes and outcomes of reproductive technologies, including but
not limited to:
● artificial insemination
● artificial pollination
2018 Q10
Both artificial insemination and cloning are reproductive techniques that can decrease the
genetic diversity of a population. Which row of the table provides a correct reason for each
technique’s contribution to this decrease?

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Describe the key difference between natural insemination and artificial insemination.
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Describe the key difference between natural pollination and artificial pollination.
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Annotate the diagram to show what would happen in artificial pollination.

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This image depicts a stone monument from ancient Assyria
(dated to ~885 BC). This monument depicts a religious
ceremony in which ancient Assyrians hand-pollinated date palm
flowers to ensure the plant fruited. Date palm trees grow as
either male or female. The ancient Assyrians transferred pollen
from the anthers of male date palm trees with desirable
characteristics to the stigmas of female date palm trees. Today,
this process of manually fertilising flowers is called artificial
pollination. Modern date-growers still practise artificial
pollination of date palms, as do many farmers of other crops.
Complete the following multiple choice questions.

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13.3c. investigate and assess the effectiveness of cloning, including but not limited to:
● whole organism cloning
● gene cloning
What is a clone?
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Describe a methodology you could use in cloning a plant.
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Describe a methodology used in cloning animals.
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Describe how cloning can alter the genetic composition of a population
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What are the legal restraints on cloning in Australia?
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Complete the table to summarise ways agriculture and horticulture use different cloning
methods.
Cloning
Diagram Features
Method

Stolon

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Tubers

Rhizome

Suckers

Bulbs

Cuttings

Grafting

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Tissue

The diagram shows one method used in the cloning of animals. Refer to the diagram to explain
this process.

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Describe how you can verify the animal produced was a clone.
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Define ‘gene cloning’.
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Distinguish between gene cloning and whole organism cloning..
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Give some examples of how gene cloning is used in agriculture.
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Use a example of cloning in a named plant or a named animal to show how the cloning procedure
benefited people.

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Discuss some of the issues associated with the cloning of organisms especially issues related to
agriculture and horticulture.
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The diagram shows a procedure that can be used to insert a gene into a plasmid.
Describe what is happening at each stage.
Stage L:

Stage M:

Stage P:

Stage Q:

Stage R:

Stage S:

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2018 Q33
Construct a flow chart to show how an animal with a diploid number of 32 chromosomes can be
cloned and how the clone can be verified. Include reference to chromosome number in each step.
(5 marks)

Transgenic mice can be used as models to study human diseases such as muscular
dystrophy, a condition caused by sex-linked mutation. These mice have been genetically
modified and cloned, resulting in a population with the disease.

Explain how developments in our understanding of genes and gene technologies have led to the
use of such models to study human disease. (7 marks)
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13.3d. describe techniques and applications used in recombinant DNA technology, for
example:
-the development of transgenic organisms in agricultural and medical applications
(ACSBL087)
Complete the table to summarise two different methods of gene transfer to form a transgenic
organism
Feature Microinjection Gene gun
Diagram

Description

Use an example to show how a transgenic organism is used in a medical application


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Complete the table giving an example of a transgenic animal and a transgenic plant.
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Feature Transgenic animal Transgenic plant
Name of organism

Gene inserted

Benefit

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Concern about use of
transgenic species

Complete the table to summarize the different types of adult stem cells.
Type of adult stem cell Location Cell Lines
Neural stem cell

Hematopoietic stem cells

Mesenchymal stem cells

Intestinal stem cell

Outline how stem cells could be used for therapeutic cloning


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Explain why there is controversy about the use of stem cells for research and the development
of new medical technologies.
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In September 1990, doctors at the US National Institute of Health performed the first approved
gene therapy on Ashanti DeSilva. Ashanti was born with
the rare disease severe combined
immunodeficiency (SCIO) which means she lacked a
healthy immune system and lacked the ability to combat
normal childhood illnesses. At the time she was four years
old.
The treatment involved the removal of white blood cells
which were allowed to grow in the laboratory. The
missing gene was inserted into the cells and then the new
blood cells were infused back into her bloodstream. The
gene therapy improved her immune system by 40%. The
process needed to be repeated as the treated white blood
cells only work for a few months. In early 2007 she was
still healthy and attending college.
Describe the problem, as shown by this case study, that has kept gene therapy from becoming a
widely used treatment for genetic disease.
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There was a temporary halt to gene therapy treatment for children with severe combined
immune deficiency (SCIO) often called the 'bubble child' disease when two children being

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treated at a Paris clinic developed a leukaemia-like condition. Explain why these children are
called 'bubble children' and why it was necessary to halt research and then later to resume
research.
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13.3e. evaluate the benefits of using genetic technologies in agricultural, medical and
industrial applications (ACSBL086)

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13.3f. evaluate the effect on biodiversity of using biotechnology in agriculture
13.3g. interpret a range of secondary sources to assess the influence of social, economic
and cultural contexts on a range of biotechnologies

Complete the table to summarize some industrial applications of genetic technologies.


Industrial Application Description Example

Protein engineering

Metabolic Engineering

Biodegradable plastic
industry

Bioremediation

Oilseed industry

Biohydrometallurgy

Biomineralisation

Biofuels

Define hybridization.
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Explain the term 'hybrid vigour'.


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Describe an example of hybridization within a species and explain the purpose of this
hybridization.
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Use an example to explain how humans have benefited from polyploidy in a plant population.
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Use an example to explain how humans have benefited from polyploidy in an animal population.
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Refer to the diagram to evaluate the use of different biotechnologies in agriculture and their
effect on biodiversity.

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Humans have been exploring biotechnology for thousands of years. Describe common
biotechnological applications in plants and animals in historical, modern, and future contexts.

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APPLICATIONS OF BIOTECHNOLOGY
Plant Animal
Historical

Modern

Future

In Sydney, Minho is determined to synthesize a fertility medication to improve IVF


implantation in older women. The medication contains animal proteins and was
successfully tested on monkeys, mice, and pigs. It will begin human trials in two years.
In this scenario, describe at least one social, cultural, economic, and ethical consideration
that may be raised.
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2019 Q24
Explain the loss of biodiversity that may result from TWO biotechnologies used in agriculture.
(5 marks)
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