HSC HEAD START LECTURE

BIOLOGY

Presented by:
Maddie Wainwright
MODULE 5 – HEREDITY

1 REPRODUCTION

• How traits are passed from generation to

generation on a
2 CELL REPLICATION
– System
– Cellular, and
DNA AND POLYPEPTIDE – Molecular level
3 • How genetic information, stored as DNA, is
SYNTHESIS
expressed as external traits
• How variation occurs in populations
4 GENETIC VARIATION • How this variation may be traced within
populations

INHERITANCE PATTERNS
5
IN A POPULATION

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 5.1 REPRODUCTION
1 ANIMALS 2 PLANTS 3 FUNGI
- External fertilization - Asexual reproduction - Asexual reproduction
- Internal fertilization - Vegetative propagation - Budding
- apomixis - Spores
- Sexual reproduction - Fragmentation
4 PROTISTS
- Sexual reproduction
- Asexual Reproduction 5 BACTERIA
- Binary Fission - Binary Fission
- Budding
- Sexual Reproduction Asexual Reproduction Sexual Reproduction

- Quick - Production of new alleles

- No requirement for - Variation
+ -
mates
Not energy intensive
- Ability to adapt to
environment
- No requirement for
offspring care

- Clones = lack of diversity - Time intensive

- Reduced adaptive - Energy intensive
– abilities - Mating partner
- More susceptible to - Fewer offspring
large-scale extinction
events

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 5.1 REPRODUCTION
KNOWLEDGE MANIPULATION IMPACT

EXAMPLE: SELECTIVE BREEDING

- We understand that in order to
REGULATION

achieve pregnancy, the sperm needs

to encounter the egg at a certain time
- Therefore, we time breeding so that it
occurs during intersecting fertility
cycles
- We know that phenotypic traits are
heritable
FERTILISATION: fusion of gametes to initiate the - Therefore, to influence the traits of
development of a new organism livestock offspring, we cross-breed or
pure-breed
- This has led to development of new
IMPLANTATION: when a fertilised egg adheres to the species (for example, Jersey or Angus
wall of the uterus cows)

HORMONAL CONTRACEPTION:
birth control which acts by altering the endocrine
system

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5.2 CELL REPLICATION

Key Structures:
- Chromosome
- Nuclear Envelope
1. Interphase - Mitotic Spindle
- Cell Membrane

2. Prophase

3. Prometaphase

4. Metaphase

1. Rounds of
5. Anaphase division
2. Number of
daughter cells
3. Chromosome
6. Telophase
number of
daughter cells
7. Cytokinesis 4. Role in body

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 5.2 CELL REPLICATION

DNA STRUCTURE
• Nucleotide: phosphate + deoxyribose sugar +
nitrogenous base (A, T, G, C)
• Double stranded
• Alpha helix
• Complementary base pairing (hydrogen bonding)
A – T, G – C

DNA REPLICATION

1. INITIATION
• DNA unzipped by helicase
2. ELONGATION
• Primers bind to the ends of the DNA strands
• DNA Polymerase binds at primer sites
• DNA Polymerase reads strand, and attaches
complementary free-floating nucleotides
3. TERMINATION
• Polymerase reaches end of molecule and falls off
• Strands recoil into double helix
• Proofreading by nuclease enzymes

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5.3 DNA AND POLYPEPTIDE SYNTHESIS

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 5.3 DNA AND POLYPEPTIDE SYNTHESIS
TRANSCRIPTION
1. RNA polymerase binds to promoter
sequence

2. RNA polymerase moves along the

DNA strand. Unwinding a small region
of DNA

3. RNA polymerase ‘reads’ the DNA

template strand, matching
complementary free-floating
nucleotides to create an mRNA chain

4. Terminator sequences end the

transcription of DNA, and the newly
formed mRNA molecule is released

5. Splicing and Post-translational

modifications!

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5.3 DNA AND POLYPEPTIDE SYNTHESIS

TRANSLATION
1. mRNA docks to a ribosome.
2. The ribosome matches a
complementary tRNA molecule to the
mRNA, by matching codon/ anti-
codon sequences
3. As subsequent tRNA molecules dock,
a polypeptide bond is formed
between adjacent amino acids
4. polypeptide chain is elongated by
continued addition of amino acids.
5. When a stop sequence is reached,
the ribosome releases the mRNA and
polypeptide molecule.
6. The polypeptide folds and undergoes
post-translational modifications,
resulting in a mature protein ready for
use in the cell.

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 5.3 PROTEIN STRUCTURE AND FUNCTION
Fundamental unit: AMINO ACID FUNCTIONS!
Functional properties of 1 SUPPORT and
amino acids and proteins
STRUCTURE 2 ENZYMES
determined by side chain
Macromolecular – keratin
chemistry (polar, non-polar, Biological catalysts
Micromolecular - tubulin
+ve charge, -ve charge) e.g. ATP synthase
PRIMARY STRUCTURE
The sequence of amino acids in a
Polypeptide chain 3 ANTIBODIES
Essential part of the immune
SECONDARY STRUCTURE system e.g. Immunoglobulins
Formation of alpha helices and beta
sheets (hydrophobic interactions)

TERTIARY STRUCTURE 5 TRANSPORT

Formation of overall 3D structure 4 MESSENGERS and STORAGE
Side group interactions twist backbone to Move molecules into
Hormones
maximum stability cells and around body
e.g. oxytocin
e.g. Ferritin stores Fe2+
QUARTERNARY STRUCTURE
Interaction of multiple protein subunits

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 5.4 GENETIC VARIATION
AUTOSOMAL
Genes carried on
these 22 bad boys

SEX-LINKED
Genes carried on
these 22 lil babs

DOMINANT
Trait will always be expressed INCOMPLETE
over other traits CO–DOMINANT
DOMINANCE MULTIPLE ALLELES
Both alleles in a
An allele is not An allele is not completely
RECESSIVE gene pair are fully
completely expressed expressed over its paired allele
expressed
Requires two of the same over its paired allele
allele to be inherited in order
to be expressed

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 5.4 GENETIC VARIATION
PEDIGREES

- Help us to trace phenotypes through generations

- Always include a key
- Label generations for ease of reference

• Recessive traits skip, dominant cannot

• Sex-linked traits affect one sex more
• Practice practice!

PUNNETT SQUARES

- Allow us to theorise how genes may pass from parents to offspring

- Generate information about potential genotypes and phenotypes
CHECKLIST:
1. Key
2. Parental phenotypes + genotypes
3. Fill in Punnett Square
4. Offspring genotypes + phenotypes
– Percentages
– Ratio

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 5.5 INHERITANCE PATTERNS IN A POPULATION
DNA SEQUENCING DNA PROFILING
1. Isolate DNA from cells 1. Collect DNA samples from cells (common
2. Identification of sequential order of nucleotides practice: blood, hair follicles, mouth swabs)
3. Computational processing 2. Digest DNA – cut the DNA into small pieces
• Comparison of whole genomes using a restriction enzyme.
• Transcription and translation of genes in silico 3. DNA fragments separated by gel electrophoresis
4. Gel visualized to show band pattern, and
‘fingerprints’ can be compared

• Single nucleotide information

• Each individual has a different genome • Visualisation of fingerprints allows for comparison
• Identification of differences and similarities of patterns
• Modern computation allows patterns to be • Degree of similarity = degree of relatedness
identified • May observe conserved regions of DNA
• Trace inheritance of genes, alleles and SNPs • Effective in humans due to large stretches of
between people ‘junk DNA’

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 5.5 INHERITANCE PATTERNS IN A POPULATION
LARGE SCALE
TRENDS, PATTERNS,
COLLABORATIVE APPLICATION
RELATIONSHIPS
PROJECT

CONSERVATION MANAGEMENT INHERITANCE OF DISEASE HUMAN EVOLUTION

• Conservation genetics: field • Only a 0.8% nucleotide • Cultural/regional groups often
combining molecular genetics, variance among humans linked by prevalence of
ecology, and biodiversity • All genetic disease must be particular haplotypes
sciences, in order to propose contained within this variance • Mapping haplotypes allows us
species management • Understand the causes of to trace the movement and
strategies genetic disease – is it evolution of human species
• Uses population genetics to hereditary, due to random • Identification of common
identify alleles at risk mutation, by what interaction of ancestors
• Proposes ways to manage and alleles? • We have been able to trace
preserve biodiversity • We can design therapies to evolution back to
Australasian Wildlife Genomics repair genetic disorders ‘Mitochondrial Eve’ who lived
Group (Sydney University) in Africa 20,000 years ago!
Human Genome Project
- The Devil Tools and Tech - Collated data on thousands International HapMap Project
Project of genomes to identify - Uses human genome data
- The Koala Genome Project genes, variable regions, to identify SNPs, haplotypes
- Marsupial Genomics haplotypes etc. and haplogroups
- Collaborators: Australian
Museum, Chicago Zoological - Have identified genetic - From this information,
Society, National Cancer causes of reast cancer, lineages may be traced
Institute etc. Alzheimer’s, colon cancer… between populations

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MODULE 5 – TOP TIPS
1. Know your basic processes
- Meiosis, mitosis, DNA replication, polypeptide synthesis, protein folding
2. Know your basic skills
- Punnett squares, pedigrees
3. Always think about the broader context of ‘genetic variation’
- How do we achieve variation at every stage of:
- Cell division
- Gene expression
4. Memorise your examples
- Methods of Replication
- Functional proteins
- Methods of inheritance
- Technologies: DNA sequencing, DNA profiling
- Inheritance Patterns + Large Scale Collaborative Projects
5. PRACTICE QUESTIONS
- There are lots available for Module 5 in past exam papers + in Topic Test
books!
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MODULE 6 – GENETIC CHANGE

• How does mutation occur?

1 MUTATION • What are the possible outcomes of mutation?
• How can we manipulate the knowledge of
genetic change for our advantage?
2 BIOTECHNOLOGY • What is the deal with the field of biotech??
• What are all the cool genetic technologies we
have developed?
GENETIC • What are the social, economic, environmental
3
TECHNOLOGIES and cultural implications of genetic
technologies?

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MUTATION

1. How do mutagens operate

2. Different types of mutation
3. Somatic vs Germ-line mutation
4. Effects of mutation on coding vs non-coding DNA
5. Causes of genetic variation
6. Population genetics – mutation, gene flow and
genetic drift

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MUTATION
INQUIRY QUESTION:

How does mutation introduce new alleles into a population?

MUTATION: A permanent alteration to the nucleotide sequence of an

organism’s genome.

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 6.1.1 MUTAGENS
• Explain how a range of mutagens operate, including but not limited to:
- Electromagnetic radiation

- Waves emitted by How does it cause mutation?

electrically charged - Input of energy may alter the way DNA is bonded –
particles changing it’s chemical composition
- Interact and ionize atoms - May cause rearrangement of the structure
they encounter
- Danger of radiation lies in EXAMPLE: Ultraviolet light (UV)
its penetrative ability – it - Radiation from the sun, encountered daily
can travel into the - Harmful in high doses
nucleus and interfere with PYRIMIDINE DIMERS
- Incoming photons excite
DNA molecules adjacent pyrimidines (T or C)
- Causes them to form
covalent bonds
- On an average Summer’s
day in Sydney, a person will
acquire around 20,000
pyrimidine dimers

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6.1.1 MUTAGENS

• Explain how a range of mutagens operate, including but not limited to:
- Chemicals

RADIOACTIVE AGENTS
- e.g. Uranium
- Release radiation, including alpha and beta particles (high energy particles) and
gamma waves (a form of electromagnetic radiation)
- Penetrate the cell and interact with DNA bonds, creating structural disruptions

METALS
- e.g. arsenic, nickel and cobalt
- Affect processes of DNA repair – stopping proteins being able to recognize base-pair
mismatching
- Reduce fidelity of DNA replication, so more errors are incorporated
- Nickel: inhibits ability for histones to condense DNA = bad chromosome formation

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6.1.1 MUTAGENS
• Explain how a range of mutagens operate, including but not limited to:
- Naturally occurring mutagens

VIRUSES BACTERIAL INFECTIONS

- Replicate by inserting - Induce inflammation

their own genetic - Reduce efficiency of
material into host cells DNA repair systems
- May disrupt normal - Increase rate of
cells function mutation
- May lead to lasting - E.g. Heliobacter pylori
changes to an has been linked to
organism’s genome development of
stomach cancer

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6.1.2 MUTAGENS
• Compare the causes, processes and effects of different
types of mutation, including but not limited to:
- Point mutation

CAUSES EFFECTS
- External mutagens - Silent
- DNA replication - Missense
errors - Nonsense
- DNA repair system - Creation of SNPs
malfunction - Creation of new
alleles
- Potentially beneficial,
potentially negative
- Just because a point
mutation is small,
doesn’t mean it can’t
be disastrous (e.g.
Cystic Fibrosis)

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6.1.2 MUTAGENS
• Compare the causes, processes and effects of
different types of mutation, including but not limited to:
- Chromosomal mutation

CAUSES
- Usually a result of errors in
meiosis
- Crossing over occurs
incorrectly (chunks of DNA
screwed up = structural
mutations)
- Sister chromatids
incorrectly separated
during anaphase (DNA not
separated properly =
number mutations)

EFFECTS
- Usually severe, because
chromosomal mutations involve
large changes to a number of
genes

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 6.1.3 MUTAGENS
• Distinguish between somatic mutations and germ-line mutations and their effect on an organism

GERM-LINE MUTATION Example: skin cancer SOMATIC MUTATION

• germ cells = gametes • Somatic cells =
• Fertilisation and already existing,
subsequent growth differentiated cells
into an embryo forms • Changes to these will
basis of all cells in the only affect daughter
body cells produced by
• Therefore, changes to mitosis (e.g. one
the gametes = specific tissue)
changes to all cells in • Usually caused by
the offspring external mutagens
• Offspring inherit • May also be caused by
mutated information error during replication
• May be caused by • Mutations are not
both internal and passed onto offspring
external factors Example: Cystic Fibrosis

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 6.1.4 MUTAGENS
• Assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of mutation

non-coding DNA coding DNA

junk DNA enhancers and silencers promoters genes introns terminators non-coding RNA

Mutation to junk
Mutation to non-
DNA probably Mutation to a Mutation to coding RNA
wont matter promoter region introns may sequences may result
may inhibit the have effects in alterations to
ability for a gene to on splicing of important molecules
Mutation to
be transcribed genes
regulator regions such as tRNAs
may result in genes
being over or under Mutation to a coding region
expressed (too may have effects on what Mutation to terminator
much or too little proteins are produced, and sequences may result in
protein being therefore may have serious incorrect, elongated mRNA
produced) effects on cell function sequences

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6.1.5 MUTAGENS
• Investigate the causes of genetic variation relating to the processes of fertilisation, meiosis and
mutation

Point mutations
Generates new alleles
Chromosomal mutations
mutation

Crossing over
Alleles are re-combined and
sorted in random / independent Random segregation
meiosis / unexpected ways
Independent assortment

Uncontrollable
These variable alleles from two
combination of a number
fertilisation different organisms are brought of possible gametes
together, and interact in new
ways to generate new
Interactions of alleles to
phenotypes produce phenotype

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6.1.6 MUTAGENS
• Evaluate the effect of mutation, gene flow and genetic drift on the
gene pool of populations

MUTATION: A permanent GENE FLOW: transfer of GENETIC DRIFT: when the

alteration to the nucleotide genetic variation (different relative frequency of alleles
sequence of an organism’s alleles) from one population within a population
genome. to another. changes, due to
disappearance of particular
genes as a result of natural
selection.
Creation of new alleles in Changes the frequency of
the population alleles within different
populations
May be favourable, and Traits become more or less
subsequently selected Effects the distribution of prevalent in a population
genetic diversity overtime

May lead to evolution of

species / creation of new
species

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6.1.6 MUTAGENS
• Evaluate the effect of mutation, gene flow and genetic drift on the gene pool of populations

BOTTLENECKING: when there is an THE FOUNDER EFFECT: when a new

abrupt reduction in the number of population is established by a small
individuals in a population (as the result number of individuals separated from a
of a sudden and severe selection larger population, there will be a loss of
pressure), causing a loss of diversity in genetic variation within the new group.
the gene pool. This may lead to new speciation events
and evolutionary pathways.

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6.1.6 MUTAGENS
• Evaluate the effect of mutation, gene flow and genetic drift on the gene pool of populations

EVOLUTION: change in a species over many generations, as a result of

natural selection of favorable characteristics

1. Variation occurs within a population due to natural mutation

2. Environmental pressure is applied to the population

(physical, chemical, competition for resources)

3. Phenotypes best suited to the changed environment, the

fittest, survive.

4. Surviving organisms reproduce. This gradually changes the

majority of population traits

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PRACTICE QUESTION mutation

The bread mould, Neurospora crassa, normally produces its own amino
acids from raw materials through a system of enzymes

If a mutation occurred in gene B, the bread mould would still produce

arginine if supplied with:
A. Citrulline
B. Ornithine
C. Enzyme C
D. Raw materials

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PRACTICE QUESTION mutation

Compare the processes and effects

of point mutations and
chromosomal mutations. Include
examples in your answer. (8 marks)
Definitions: What are mutations?
How do they occur?

Point Mutations:
Detailed description + examples
How they occur (process) +
outcome on cell (effects)

Chromosomal Mutations:
Detailed description + examples
How they occur (process) +
outcome on cell (effects)

Summary: COMPARISON!

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BIOTECHNOLOGY
1. What are the social implications and ethical uses
of biotech?
2. What are the future directions of biotech?
3. What are the potential benefits to society of using
genetic technologies?
4. What are the possible changes to the Earth’s
biodiversity due to genetic techniques?
INQUIRY QUESTION:

How do genetic techniques affect Earth’s biodiversity?

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 6.2 BIOTECHNOLOGY – uses and applications

Medicine

Industry Food Energy

Environmental
Sciences

Computation

“Any technological application that uses biological systems,

living organisms, or derivatives thereof, to make or modify
products or processes for specific use”
- UN Convention on Biological Diversity, Art. 2
Simply: technology based on biology

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 6.2 BIOTECHNOLOGY – benefits to society

MEDICAL BIOTECH INDUSTRIAL BIOTECH ENVIRONMENTAL BIOTECH

- Pharmaceuticals - Enzyme biotechnology - Bioremediation
- Vaccines - Improving efficiency - develop
- Antibiotics of industrial microorganisms
- Stem Cell Treatments processes able to ‘clean-up’
- Create skin grafts, - Biodegradable plastics pollution
treatment of - Biopolymers - Agricultural
cancers and derived from plants Biotechnology
autoimmune and bacteria - Genetically
diseases - Energy sources modified organisms
- Bioinspired materials - Biofuels to better suit
- ‘spray-on skin’ - Photosynthesis changing
- Diagnostics environments
- Biosensors

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 6.2 BIOTECHNOLOGY – social implications and ethical uses

- Meeting the growing needs of society – improving quality of life

- E.g. meetings the United Nations Sustainable Development Goals
- Ending poverty and hunger
- Improving health and wellbeing
- Access to clean water and sanitation
- Clean energy
- Sustainable cities
- Harness biological tools to invent new, creative solutions
- Genetic Diversity
- Create new arrangements of genes, new allele combination
- Allow for organisms to adapt to their environment
- Ultimately accelerate the process of evolution
- Open-Source Information
- Creation of public databases allows for the growing amount of
biological knowledge to be shared in a democratic fashion

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 6.2 BIOTECHNOLOGY – social implications and ethical uses

- Ownership
- Should we allow people or corporations to ‘own’ biological information?
- There may be economic benefits to allowing monopolies over biological
processes
- Intellectual property constraints may become prohibitive to progress (e.g.
zinc fingers technology)
- Where is the line between ‘natural’ and ‘synthetic’?
- Commercial Implementation
- Biotech Monopolies
- Companies with vast resources may dominate the market, and drive up the
prices of products to the detriments of those who need the tech most
- Programmed dependency
- Consumer rights and choices
- Regulation
- Governments – can they strike a balance between safety and innovation?
- Biohacking

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 6.2 BIOTECHNOLOGY – future directions

- Continual improvement and refinement of

current technologies
- Creation of novel approaches to emerging
issues
- Backyard biotech

SYNTHETIC BIOLOGY
- Interdisciplinary approach
- Engineering approach to biological tools
- Combines molecular biology, genetics,
biophysics, computer engineering,
evolutionary biology etc…
- How can we break our knowledge of
biology down into parts, and then re-work
these parts in new and inventive ways?
- Driven by student-led competitions

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 6.2 BIOTECHNOLOGY – effects upon biodiversity
POSITIVES NEGATIVES
- Crops may be insect resistant - Ability for GM crops to out-compete
- Do not need to use harsh - Establishment of mono-culturing
chemicals which impact practices
environment - This may lead to loss of genetic
- Crops may have increased stress- diversity
resistance and productivity - Horizontal gene transfer into native
- Maximise use of restricted land ecosystems
- Grow vegetation where there are - Competitive advantage may lead
harsh environmental pressures to loss of naturally occurring
- Deliberate introduction of variation alleles and variation

EVALUATION
- Agricultural practices, driven primarily by short-term profit, have always posed a threat
to biodiversity. Biotechnology gives us the tools to enact this at a more rapid pace, on
a more fundamental level
- Biotech has huge potential to help the agricultural industry, but must be used wisely,
effectively, and with consultation of necessary stakeholders.

ALSO: 6.3.6 - Evaluate the effect on biodiversity of using biotechnology in agriculture

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PRACTICE QUESTION biotechnology

Discuss the benefits which the field of biotechnology currently contributes

to society. (5 marks)
5 mark question = AT LEAST 2 examples with detail

Biotechnologies hold the potential to significantly improve our quality of life. By drawing
inspiration from nature, more creative and elegant tools may be developed to address a
number of problems facing humanity within the 21st century.
A major issue which humanity faces is maintenance of health, and how we can improve health
care within all countries. Medical biotechnology has developed a range of biosensors, able to
quickly detect the presence of certain pathogens or biomarkers indicating disease. Biosensors
may be produced cheaply and designed to last in storage, allowing wide-spread use in areas
of need.
Another important concern which the field of biotechnology has aimed to rectify is the
widespread pollution. Bioremediation may be enacted by engineering microorganisms to
metabolise pollutants. For example, recently scientists have developed bacterial strains able
to degrade pET plastic. Use of such organisms may allow for less waste, clean-up of oil spills,
or even decontamination of the environment from harmful chemicals.

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PRACTICE QUESTION biotechnology

HSC 2014 Question 32 (e)

The test summarises an ethical framework for decision-making related to
the use of biotechnologies.

Utilitarian Ethics
An ethical activity is one that provides the greatest balance of good over harm
for society and the environment

The Precautionary Principle

If there is doubt about the harm that may be caused by an activity, the proposers
of the activity must prove the harm is not significant for society and the
environment.

Evaluate the ethics of the use of ONE specific biotechnology in relation to

this framework. (7 marks)

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PRACTICE QUESTION biotechnology

Specific Biotechnology: Genetically Modified Organisms (GMOs)

UTILITARIAN ETHICS PRECAUTIONARY PRINCIPLE
- GMOs can be used for the good of society, - If there exists any potential threat of harm,
as we can introduce useful traits the technology should not be implemented
- For example, insect resistance, frost - Companies should prove there is no
resistance etc. significant risk in the product
- However, there are some perceivable - This ethical mindset is about risk
concerns with these technologies minimisation, rather than good
- Creation of monocultures maximisation
- Horizontal gene transfer - For example, it should be demonstrated
- Environmental impacts that the technologies will not cause
- Essential question: does the good environmental impacts etc.
outweigh the potential impacts? - This is significant considering the high-
- A question of balance and need stakes in biotechnology, where there is a
- Also, can these impacts be rationally risk of significant change to the
managed? environment on a fundamental level
SUMMARY
What do you think?

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GENETIC TECHNOLOGIES

1. Uses and advantages of current genetic technologies

2. Reproductive Technologies
3. Cloning
4. Recombinant DNA Technologies
5. Benefits to agricultural, medical and industrial applications
6. Effect on biodiversity of agricultural biotech
7. Influence of social, economic and cultural contexts
INQUIRY QUESTION:

Does artificial manipulation of DNA have the potential to change

populations forever?

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6.3.1 USES AND ADVANTAGES OF GENETIC TECHNOLOGIES
• Investigate the uses and advantages of current genetic technologies that induce genetic change

GENETIC TECHNOLOGIES RECOMBINANT

DNA TECHNOLOGY
REPRODUCTIVE CLONING
TECHNOLOGIES TECHNIQUES Gene Sequencing
- Medicine, Research
Artificial Insemination Whole-organism Transgenesis
- Livestock industry - Livestock industry - Agriculture, Biotech

In Vitro Fertilisation Therapeutic cloning Gene Therapy

- Fertility treatment - Medicine - Medicine

ELISA
Artificial Pollination Gene cloning
- Medicine
- Agriculture - Medicine
- Industry CRISPR
- Medicine, Molecular tool

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6.3.2 REPRODUCTIVE TECHNOLOGIES
• Compare the processes and outcomes of reproductive technologies, including but not limited to:
• Artificial insemination
• Artificial pollination

ARTIFICIAL INSEMINATION
Injection of semen into uterus without
sexual intercourse
- Select animals with favourable trait
to breed
- Synchronise births, avoid injuries

IN VITRO FERTILISATION
Egg is fertilised outside of
the body
- Fertility treatment used
by humans to achieve
successful pregnancy
- Allows embryo
screening prior to
implantation

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6.3.2 REPRODUCTIVE TECHNOLOGIES

ARTIFICIAL POLLINATION
Plant sperm purposefully taken from one
plant and placed on stigma of another
- Creation of new plants with favourable
traits (pure breeding, cross-breeding)
- Conduct genetic experiments (Mendel)

Reproductive Technology Outcomes

Artificial insemination - Passing on favourable genes to offspring

- Increased efficacy of livestock industry
- However, may lead to limited genetic variability
In vitro fertilisation - Able to reproduce with desired mate
- Allows for genetic screening of embryos to avoid disease
- However, expensive
Artificial pollination - Higher crop yields
- Selection of desirable traits/creation of new plant species
- Creation of monocultures

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6.3.3 CLONING
• Investigate and assess the effectiveness of cloning, including but not limited to:
• Whole organism cloning
• Gene cloning

SOMATIC-CELL NUCLEAR TRANSFER (Dolly le sheep)

1. Adult cell removed from the organism you want to clone
2. Unfertilised egg is removed from a donor and denucleated = empty vessel
3. Denucleated egg and the stem cell are fused
4. Cell is cultured. Begins to divide and become an embryo.
5. Embryo is implanted into a surrogate organism.
6. Surrogate gives birth to an organism which is genetically identical to the donor.

Effectiveness:
- Offspring may not be strictly
identical to parent
- Somatic cell mutations
- Mitochondria
- Epigenetics
- Expensive, not time efficient
- Probs better to just clone organs

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6.3.3 CLONING
GENE CLONING
Creating lots of copies of a gene of interest

1. ASSEMBLE RECOMBINANT DNA

- Identify target gene (sequencing)
- Cut gene out or order it online
- Treat gene fragment and plasmid with
restriction enzyme – create ‘sticky ends’
- Combine – sticky ends will come together
by base-pairing affinity
- Treat with DNA ligase to repair backbone
2. REPLICATE DNA
- Insert recombinant plasmid into host,
bacteria, because they are super micro-
factories
- Host bacteria will express the gene lots
and lots to produce the protein of interest, Effectiveness:
Alternatively, if your aim is DNA not protein - Fast and cheap
- PCR – Polymerase Chain Reaction - Bacteria are easy to work with
- easy to buy and sequence DNA

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PRACTICE QUESTION genetic technologies

HSC 2016 Question 34 (d)

a. Using an example, describe what is meant by gene cloning. (2 marks)
Gene cloning is the process in which identical copies of a gene are produced. An example
is the production of copies of the gene coding for human insulin that can be inserted into
bacteria that will then produce insulin

b. Assess the impact of advances in our understanding of mutations on the

development of technologies. (4 marks)
Mutation is a change in the DNA of an organism.
For example, understanding that cystic fibrosis can be caused by a mutation of the CFTR
gene on chromosome 17 has led to the ability to screen for this mutation. For example,
gene sequencing may be used to detect the presence of the mutation in individuals.
The understanding of the nature of genetic mutations led to the improved DNA
sequencing technologies employed in the Human Genome Project.
Knowledge of DNA and mutations has been the driving force behind the development of
new technologies.

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EXAM
PREPARATION
- Stay on top of class work
1 CONSOLIDATE YOUR NOTES WEEKLY - Continuously solidify key concepts
- Don’t miss important details

- Categorise/contextualise information
2 CREATE MODULE SUMMARIES - Memory aid
- Big-picture concepts + key details

- Application is key
3 DO PRACTICE PAPERS - Clarity takes practice
- Different ways content may be examined

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EXAM
PREPARATION

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6.3.4 RECOMBINANT DNA TECHNOLOGIES
• Describe techniques and applications used in recombinant DNA technology, for example:
• The development of transgenic organisms in agricultural and medical applications

RECOMBINANT DNA TECHNOLOGY: methods to join together DNA from

two different species, in order to produce new genetic combinations.

TRANSGENESIS
Introduction of exogenous genetic material (DNA from an external
source/different organism) into an organism
- Performed so organism exhibits a new trait
- DNA is ubiquitous across organisms, therefore we can insert new
genes into genomes to encode new traits

Methods of insertion:
- Plasmids
- Circularised bacterial DNA
- Retroviral vectors
- transfection
- DNA microinjections
- Fine glass needle

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6.3.4 RECOMBINANT DNA TECHNOLOGIES

Foundational technology: GENE THERAPY

GENE SEQUENCING The correction of genetic disorders by
1. Isolate DNA from cells introduction of normal, functional genes
2. Identification of sequential order of into cells.
nucleotides - By introducing healthy genetic
3. Computational processing material, the cell and it offspring may
• Comparison of whole genomes have restored function
• Transcription and translation of - Insertion: viruses, gene guns, inorganic
genes in silico nanoparticles
- Identify genes of interest and their - In vivo (within living) or ex vivo (out of
nucleotide sequences living)
- Identify alleles or sites of mutation

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6.3.4 RECOMBINANT DNA TECHNOLOGIES

CRISPR–Cas9 ELISA: Enzyme-Linked Immunosorbent Assay

A gene editing system for accurately An analytical biochemistry tool used to
introducing point mutations into genomes detect the presence of antigens in a
2 Parts: liquid sample.
1. Guide RNA, containing nucleotide - Diagnostic tool exploiting natural
sequence complementary to gene you antigen – antibody interactions
want to edit - Levels of biomolecules in a sample
2. Cas9 – endonuclease enzyme, cuts DNA (immune molecules, viruses, bacteria
etc.) can be measured by linking
levels of antigens or antibodies to a
fluorescent read-out
- Useful for forensic epidemiology
- Trace spread of infectious disease

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PRACTICE QUESTION genetic technologies

Which of the following is not a gene editing technique:

(A) Gene therapy

(B) Transgenesis

(C) ELISA

(D) CRISPR – Cas9

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PRACTICE QUESTION genetic technologies

HSC 2017 Question 33 (b)

Describe the steps involved in the formation of recombinant DNA. (3 marks)

Identify the desired gene in an organism (that will produce a protein) that will
benefit the target organism.

The section of DNA responsible is extracted using restriction enzymes. A plasmid

is also cut using the same restriction enzymes and mixed with the target DNA.

Ligase is added to join the two pieces together.

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6.3.5 AGRICULTURAL, MEDICAL + INDUSTRIAL APPLICATIONS
• Evaluate the benefits of using genetic technologies in agricultural, medical and industrial
applications

Selective breeding - Create crops and livestock with

favourable traits
- Higher yields
- Higher nutritional value
- Better temperament
Artificial pollination - Reduced environmental
impact
- Create organisms which do not
require insecticides or herbicides
transgenesis - Increase food security

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6.3.5 AGRICULTURAL, MEDICAL + INDUSTRIAL APPLICATIONS

- Personalised medicine
- Pre-emptive diagnosis
Cloning - Treatment of genetic diseases
- Potential cures
- Improved diagnostic tools
- Cheaper, faster, more accurate
Gene sequencing medical treatments
- Increased access to
Gene therapy healthcare
- Creation of molecules which can
be used for medical treatments
- E.g. insulin for diabetes
CRISPR
ELISA

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6.3.5 AGRICULTURAL, MEDICAL + INDUSTRIAL APPLICATIONS

- Increased speed of chemical

gene cloning reactions (enzymes)
- More efficient industrial
processes
- Creation of many everyday
sequencing
items (detergents, paper, oil)
- Creation of organisms which
produce industrially significant
products
transgenesis - Biofuels
- Biomaterials
- Energy

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6.3.6 EFFECT ON BIODIVERSITY
• Evaluate the effect on biodiversity of using biotechnology in agriculture

POSITIVES NEGATIVES
- Crops may be insect resistant - Ability for GM crops to out-compete
- Do not need to use harsh - Establishment of mono-culturing
chemicals which impact practices
environment - This may lead to loss of genetic
- Crops may have increased stress- diversity
resistance and productivity - Horizontal gene transfer into native
- Maximise use of restricted land ecosystems
- Grow vegetation where there are - Competitive advantage may lead
harsh environmental pressures to loss of naturally occurring
- Deliberate introduction of variation alleles and variation

EVALUATION
- Agricultural practices, driven primarily by short-term profit, have always posed a threat
to biodiversity. Biotechnology gives us the tools to enact this at a more rapid pace, on
a more fundamental level
- Biotech has huge potential to help the agricultural industry, but must be used wisely,
effectively, and with consultation of necessary stakeholders.

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 6.3.7 SOCIAL, ECONOMIC AND CULTURAL CONTEXTS
• Interpret a range of secondary sources to assess the influence of social, economic and cultural
contexts on a range of biotechnologies

‘biotech bubbles’ Env

s iron
Law men
ts - What gets made and used
Communities is a product of many
interlinking factors
s

Inv

Ex
trie

es - Science research is not

Re
Scientists

pe
s
un

to objective – it is influenced
itie

so
rs

rie
Co

ur
by the people who conduct
rs

nc

ce
ive

es
the research, and

s
THE
Un

internal/external pressures
SCIENCE

ers
on them
Pr Go
um
ior - Biotech is important,
iti ve s
es rn Students ns io n interesting, helpful, and
m
Co
en elig profitable
ts R - This means there are
o mp anies
C many stakeholders
Cultur ies influencing the
es m
no direction of biotech
Eco

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6.3.7 SOCIAL, ECONOMIC AND CULTURAL CONTEXTS
IMPACT ASSESSMENT
EXAMPLE:
Genetically Modified Foods SOCIAL - Address global - May increase
inequality socioeconomic
- Provide food security disparity
- Increase science - Lack of consistent
communication regulation between
- Reduction of countries may
environmental footprint restrict imports and
beneficial to global exports
community
Organisms whose ECONOMIC - Stimulates agricultural - Monopolisation by
genomes have been economy large biotech
modified by genetic - Tools to grow more cost companies (e,g,
engineering techniques effective crops Monsanto)
CULTURAL - Food culture is - Traditional methods
E.g. essential to many may be eradicated
- Golden Rice cultural practices - Mistust from
- Bt Corn - Agricultural practices communities
may be maintained - Misalignment with
- Virus-resistant papaya
- Tool for preserving cultural/religious
important food sources beliefs

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GENETIC TECHNOLOGIES – SUMMARY
GENETIC TECHNOLOGIES RECOMBINANT
DNA TECHNOLOGY
REPRODUCTIVE CLONING
TECHNOLOGIES TECHNIQUES Gene Sequencing
- Medicine, Research
Artificial Insemination Whole-organism Transgenesis
- Livestock industry - Livestock industry - Agriculture, Biotech

In Vitro Fertilisation Therapeutic cloning Gene Therapy

- Fertility treatment - Medicine - Medicine

ELISA
Artificial Pollination Gene cloning
- Medicine
- Agriculture - Medicine
- Industry CRISPR
- Medicine, Molecular tool

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 GENETIC TECHNOLOGIES – RESOURCES
PAPERS:
- A brief history of synthetic biology (2014), D.E. Cameron, C.J. Bashor and J.J. Collins
- Integrating Biological Redesign: Where Synthetic Biology Came From and Where It Needs to
Go (2014), J.C. Way et al.
- The 5 Most Pressing Ethical Issues in Biotech Medicine (2004), Ed Silverman
WEBSITES:
- [Link]
know-about-biotechnology/9625
- [Link]
- [Link]
maps/biotech-ethics
BOOKS:
- The Gene, Siddhartha Mukherjee
- Life at the Speed of Light: From the Double Helix to the Dawn of Digital Life, J. Craig Venter
COMPETITIONS:
- iGEM - [Link]
- BIOMOD - [Link]
MAILING LISTS:
- SynBioBeta - [Link]/subscribe/

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MODULE 6 – TOP TIPS
1. Understand the fundamental technologies
- Reproductive Technologies
- Cloning
- Recombinant DNA Technologies
2. Know your mutations
- Point and Chromosomal
- Causes and Effects
3. Memorise named examples
- Diseases and Disorders
- Biotechnologies
4. Do Your Research
- What biotechnologies/genetic technologies exist? Why do they exist?
What use do they currently serve?
5. Be Critical
- What are the broader influences on and of the biotechnologies you have
chosen to focus on?
6. WRITE
- Practice forming persuasive paragraphs containing the detail and critical
analysis you have collected 66
EXAM
TECHNIQUES
- Be quick
1 MULTIPLE CHOICE - Don’t get caught-up
- Process of elimination

- Pay attention to mark allocations

2 SHORT ANSWER - Clear and concise
- Define key terms

- Planning + structure
3 LONG RESPONSE - Argument addressing the question
- Relevant and sufficient detail

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 EXAM
TECHNIQUES
Longer Response Questions:

- Try to write approximately 1 ½ - 2 pages

- Ensure you address all parts of the question, especially where a specific concept is
highlighted (for example, gene expression)
- Try to structure your answer logically, and include paragraphs and headings where
appropriate
- Make sure to include as much detail as possible
- Give examples as many examples as you can as ‘evidence’ to illustrate your
point
- Try to pull together different areas of the syllabus which you can identify from the
question
- For example: DNA Structure, DNA and Polypeptide Synthesis, Protein Structure
and Function, Mutation, Genetic Variation
- Practice makes perfect J

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