BIO12-13: Explains natural genetic change and the use of genetic technologies to
induce genetic change.
Inquiry Q1: How does mutations introduce new alleles to a population?
Explain how a range of mutagens operate, including but not limited to:
● Increase rate of genetic mutation through interfering with nucleic acids
● Enter the body via inhalation, skin or eye absorption, ingestion, injection
● Metabolism, storage and excretion thus occur
Impact on cells Examples
Electromagnetic ● U.V. light, for example, affects ● U.V. light
Radiation the structure of DNA (backbone) ● X-ray radiation
● Creates pyrimidine dimer due to
bonds forming between same
adjacent bases; kink in the DNA
Chemicals ● Once ingested/ inhaled directly ● Agent Orange
affects the DNA; causing ● Mustard gas
mutation e.g. Agent Orange
cause missing limbs and birth
defects in babies/ children
Biological: ● Virus will insert their DNA into ● Virus e.g. ?
Natural and the organism. This will cause ● Microbes
unnatural the virus DNA to replicate.
Endogenous ● Reacted with DNA = mutation ● Reactive oxygen species [ROS]
● Double strand break; break helix ● O2- [superoxide] or H2O2
into two pieces [cause changes] [hydrogen peroxide] produced
● Cause base modifications
Exogenous ● Jump into DNA and change it ● Intercalators [EtBr] aka chemical
● Base analogues: pretend to be a ● E.g. of carcinogen: tobacco,
particular base cell but actually asbestos, U.V. radiation
isn’t e.g. 5-bromouracil
● Carcinogens can be mutagens;
cause cancers. Cause cells to
grow uncontrollably aka tumour.
Compare the causes, processes and effects of different mutation types, including but not limited to:
Processes
Point ● Substitution: mutation exchanges one base for another
Mutation: only ● Insertion: adding extra base pair
single base/ ● Deletion: DNA lost or deleted
nucleotide ● Frameshift: one base deleted cause the rest to shift [codes in codons]
pair affected
Chromosomal ● Translocation: similar to crossing over but not in equal fragments [no longer
Mutation: homologous; even]
bigger chunk ● Duplication: extra piece of chromosome is added
affected ● Inversion: reverses direction of part of the chromosome
Distinguish between somatic mutations and germ-line mutations and their effect on an organism
Somatic mutations
● Body cells e.g. stomach, liver, skin
● Caused by environmental factors
● Happens from fertilisation onwards
● Depending on how early on it develops,
will determine its effect on the body
● Cannot be inherited
Germ-line mutations e.g. sickle cell anemia,
cystic fibrosis, hemophilia
● Reproductive cells e.g. sperm, egg
● Has been inherited; can be inherited
**mutations usually repaired by enzymes that
check over the DNA replication processes
Assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of mutation
Coding DNA segments [exon] Non-coding DNA segments [intron]
● Directly affect the protein production; ● Assist regulation of transcription and
Chain reaction = everything affected translation
● Not directly involved in protein production
● Non-coding DNA = telomere at the end of
chromosomes act as buffers during mitosis:
shortening of telomere instead of intron
**Affect protein making process e.g. mRNA and tRNA
→ might also affect ends of chromosomes
Investigate the causes of genetic variation relating to the processes of fertilisation, meiosis and mutation
Causes: Meiosis, fertilisation, mutation (refer to previous diagrams)
● Genetic variation is part of evolution; natural selection related
● Variation introduced during meiosis; crossing over and random segregation
● Gametes fuse during fertilisation [combining genetic codes]
● When replicating DNA, there can be mutations that occur
● SNPs [single base changes] are the most common form of mutations
● Changing nucleotide sequence of a section of DNA coding for a specific trait
Impacts of Genetic variation
● Increases the gene pool [more assortments]
● Persistence of populations over time through changing environments depends on their capacity
to adapt to shifting external conditions
● Addition of a new allele to a population makes it more able to survive
● Usually, addition of an allele to a population has no effect
Evaluate the effect of mutation, gene flow and genetic drift on the gene pool of populations
GENE FLOW GENE DRIFT
● Transfer of genetic variation from one ● Allele frequencies of a population change
population to another over generations due to chance
● Important for transferring genetic diversity ● Bottleneck effect: natural disaster wipe out
among populations population
● Migrants change the distribution of genetic ● Small group splits off from main to found
diversity within populations colony (founder effect): “random sample”
● Genes mixed together [flow of genes from ● Small populations are more likely to be
one to another] vulnerable to genetic drift [bigger impact
● If extensive, can cause neighbouring on small population as there weren’t that
populations to become one many representatives to begin with]
EVOLUTION GENE POOL
● Variation within species ● Large → genetic diversity
● Selection pressure introduced ● Small → low amounts of diversity
● Result in competition and death ● Can be used to determine allele frequency
● Survivors’ alleles become more frequent [Hardy Weinberg comes into play]
E.g. Bacterial Resistance to Antibiotics
Inquiry Q2: How do genetic techniques affect Earth’s biodiversity?
Investigate the uses and applications of biotechnology (past, present and future), including:
Analysing the social implications of biotechnology, including plant and animal
Applications of Biotech: Conservation and Biotech
● Food production ● New methods for collecting and storing genes e.g. seed
● Fermentation and tissue culture (endangered)
● Selective breeding ● Detect and eliminate diseases from gene bank
● Medical and pharmaceutical collections
applications ● Identification of useful genes
● Environmental applications ● Improved techniques for long-term storage
● Biodiversity conservation ● Safer and more efficient distribution of germ cells
(gametes) to users
GM Crops (2003 onwards) and their consequences
Human Health Environmental Issues Economic
● Can improve human ● Reduce need for ● Crops include genes to
nutritional standards; associated deforestation enable them to grow in a
incorporating proteins, ● Less chemical wider range of
vitamins, vaccines insecticides environments e.g.
● Can be manufactured; ● Reduce biodiversity in drought, frost and salinity
lack common natural region by competing with resistance
allergens/ toxins indigenous plant life; ● GM crops produce
● Inclusion or removal of monoculture of plants greater yield (faster and
certain genes can trigger ● Proteins or toxins could larger products)
unexpected adverse negatively impact ● Slow rate of spoiling;
health reactions in some organisms in ecosystem longer shelf life
individuals ● Cross-pollination by GM ● Possesses resistance to
● Not all GM foods are crops; formation of certain viruses, produces
labelled (making herbicide resistant toxins to pests
informed decisions of weeds and grasses ● Herbicide resistant crops
use difficult for ● Pest toxins accelerate can be used to allow for
consumers) evolution of resistant the easier weed killing
pest species ● Overall, improved yield;
reduction in farming
BT cotton [Plant case study] **Yield of cotton is important costs & farm more
● 38% of fiber market ● Patent protection allows
● Normal cotton; pests and uses a lot of water, soil and labour biotech companies to
● BT is insect resistant transgenic crop combats bollworm restrict use of seeds and
● Bacillus thuringiensis; plant’s genome produces toxin force farmers to pay high
crystals that the plant would not normally produce; ingested prices for use
by organisms causes gut lining to dissolve; death
● Monsanto (biotech company) own patents of BT cotton
Insulin Production in Bacteria [Animal/ Human Case Study]
● Early 1980’s, insulin extracted from PROCESS: Recombinant Gene Transfer
pancreas of cows or pigs (Entering human gene into plasmid)
● Process of attaching human gene for insulin 1. Extract insulin gene from human cell
production to the DNA of [Link] 2. Spliced into plasmid vector [autonomous
● GMO Insulin; most common source of replication/ expression] before inserted
pharmaceutical insulin into bacterial cell
● Bacteria/ yeasts can grow at faster rate and 3. Transgenic bacteria are then selected
at lower costs i.e. no maturation time and cultured in fermentation tank
● Bacteria supply is unlimited [increase numbers]
● Insulin produced identical to human insulin 4. Bacteria now produce human insulin;
[human gene used] harvested, purified and packaged for
human use
Ethical uses of biotechnology:
● Biotech needs to be carefully tested and analysed
● Clinical trials and government regulation help ensure that biotech product placed on the market
are safe [if not, they are removed]
Examples: Researching future directions of the use of biotechnology
Evaluating the potential benefits for society of research using genetic technologies
Industrial purposes Agriculture Medicine
● Sustainable ● Improved productivity ● Gene therapy; insert genes
processing and and sustainability into cells to replace
production of ● Better management of defective genes with
chemical products, pests, weeds and functional genes
materials and fuels diseases i.e. prevention, ● Stem cells; replace
● Uses enzymes and management diseased tissue with new,
microorganisms to ● Develop new industries; healthy tissue
produce products medicine, biofuels or to ● Nanomedicine; using
useful for a range of produce other functional microscope technology to
industries e.g. chem products destroy cancer cells
and pharmacy, human ● Improved ability to [convert infrared light into
and animal nutrition, address emerging heat energy via nanoshells
textiles, biofuels challenges through or metallic lenses]
● More environmentally mitigating the effects of ● New drug delivery system:
friendly and efficient adverse environmental microsphere therapies
conditions and through microscopic
increasing productivity particles
● CRISPR: new gene editing tool (very precise and contentious); genes spliced/ inserted accurately
Evaluating the changes to the Earth’s biodiversity due to genetic techniques [look at Inquiry Question 3]
Inquiry Q3: Does artificial manipulation of DNA have the potential to change
populations forever?
Investigate the uses and advantages of current genetic technologies that induce genetic change
Research
● Using genetically modified
bacteria, plants, etc. to better
understand life processes.
Agriculture
● Modifying crops; introduce pest/
disease resistance to pests or
diseases, herbicide tolerance,
drought resist, or improving the
nutritional value
Therapeutic goods
● Modifying microorganisms to
produce vaccines/ medicines
Medicine
● Developing new ways to
diagnose and treat disease
Veterinary medicine
● Producing animal medicines and
vaccines
Industry Bioremediation
● Produce enzymes to use in food ● Using microorganisms to decompose toxic substances
processing, or biological and clean-up industrial sites or environmental accidents
leaching of minerals.
Compare the processes and outcomes of reproductive technologies, including but not limited to:
Reproductive Technologies
● Applies to any use of technology to assist and improve reproduction
● Current reproductive tech and genetic engineering are the culmination of humans to improve
the quality and yield of their food
Description and method Example + Image
Artificial ● Process of collecting sperm cells from
Insemination a male animal
● Manually depositing them into the
reproductive tract of a female
● Many benefits i.e. increased safety of
the animals and prevent disease
transmission, increased production
efficiency and better genetics,
Artificial ● Occurs when humans intervene with
Pollination the natural pollination process. Done
by hand or machine.
● Allow pollen to fertilize the ovaries
and create seeds develop into fruits
● Becoming more popular as the bee
population decreases.
● Self/ Cross-Pollination (2 types)
Selective 1. Decide which characteristics are
breeding important enough to select.
2. Choose parents that show these
characteristics from a mixed
population. They are bred together.
3. Choose the best offspring with the
desired characteristics to produce the
next generation.
4. Repeat process continuously over
many generations, until all offspring
show the desired characteristics.
In-vitro ● Differs from artificial insemination:
Fertilisation egg is fertilised by a sperm outside
the mother’s body (in e.g. Petri dish)
● Zygotes cultured until at early stage of
development
● Transferred into biological mother,
surrogate mother or frozen in liquid
nitrogen for later transplantation or for
scientific research
● Often used in cases of decreased
fertility in one or both of the parents
Investigate and assess the effectiveness of cloning, including but not limited to:
Cloning [creating genetically identical organisms or group of cells derived from single OG parent cell]
● Organisms that reproduce asexually will produce genetically identical clones
● Mechanisms exist whereby sexually reprod. organisms produce clones e.g. identical twins
● Cloning multicellular organisms require stem cells (they later differentiate and specialise)
Whole Organism cloning Cell cloning (therapeutic) Gene cloning
● Fully developed whole ● Use cells to produce cloned embryo ● Occurs at
organism created ● Purpose: to provide with cells cellular level
● Form of asexual reproduction (controversial; ethical components) and involves
● Somatic cells removed from ● Nucleus of a cell, typically skin cell, producing
adult donor inserted into a fertilized identical
● Unfertilised egg cell fused with nucleus-removed eg copies of
haploid nucleus is removed ● Nucleated egg divides = blastocyst genes I.e. PCR
● Fused to make diploid egg cell ● Scientists extract stem cells from ● Isolate and
(donor DNA) blastocyst and grow cells that are a make exact
● Electric current stimulates perfect genetic match for the patient copy of gene
division of egg and ● Cells created via therapeutic cloning ● Insert gene
development into an embryo transplanted into patient to treat/ from one
● Embryo implanted repair disease organism AKA
"foreign DNA,"
into genetic
material of a
carrier AKA
vector.
● E.g. of vectors:
bacteria, virus
● Gene is
inserted,
vector is
placed in lab
conditions;
multiply, gene
copied many
times over.
Artificial Embryo Twinning (old) Somatic Cell Nuclear Transfer (new)
● Mimics the natural identical twin process ● Produces the same result: exact genetic copy,
● Twins from very early in development when the or clone, of an individual. I.e. Dolly Sheep.
embryo splits in two 1. Researchers isolated somatic cell
● Twinning happens in the first days after egg 2. Remove the nucleus and all of its DNA from an
and sperm join, while embryo is made of small egg cell. They transfer nuclei from the somatic
number of unspecialized cells cell to the egg cell.
● Each half of embryo continues dividing on its 3. After some chemical tweaks, the egg cell, with
own, developing into a separate individual its new nucleus, was behaving just like a
● Developed from the same fertilized egg, thus freshly fertilized egg.
individuals genetically identical. 4. Develops into an embryo, which was implanted
● AET uses same approach; carried out in a into a surrogate mother and carried to term.
Petri dish instead of inside the mother (transfer using electrical current to fuse egg
● Very early embryo separated into individual and somatic cell)
cells, which then divide and develop for a short 5. Dolly Sheep, was an exact genetic replica of
time in the Petri dish the adult female sheep that donated the
● Embryos placed into a surrogate mother, to somatic cell. She was the first-ever mammal to
finish developing be cloned from an adult somatic cell.
● Since all embryos came from the same
fertilized egg, they are genetically identical
Describe techniques and applications used in recombinant DNA technology, for example:
– the development of transgenic organisms in agricultural and medical applications [reference above]
Evaluate the benefits of using genetic technologies in agricultural, medical and industrial applications
Agriculture/ Industrial Medicinal Images/ Diagrams
● Allow humans to ● Anticoagulants prevent
manipulate combinations heart attacks
of alleles and increase ● Insulin; diabetic uses
frequency of favourable ● Cancers and viral
alleles: infections
○ GM organisms ● Create interferons
faster than selective (immunity), human
breeding growth hormones
○ Reduce use of (growth defects)
agrochemicals e.g. ● Factor VIII for
herbicides/ hemophilia (blood
pesticides clotting needed;
● BUT, humans can’t sex-linked disease]
determine exact ● Vaccines for diseases
combination of genes i.e. hepatitis B
passed on; favourable ● Transgenic organisms:
traits linked to uses recombinant
unfavourable ones that process
bring discomfort and
suffering of animal
Evaluate the effect on biodiversity of using biotechnology in agriculture
Short term impact Long term impact
● Increase in genetic ● Continued breeding of the same hybrid lines
diversity when hybrid decreases genetic diversity
species are formed ● Seed bank ensures extinct species remain
able to reproduce (still have their DNA)
Interpret a range of secondary sources to assess the influence of social,
economic and cultural contexts on a range of biotechnologies
○ Fairness in the use of genetic information/ Privacy and confidentiality
○ Psychological impact and stigmatisation
■ Beliefs, attitudes and values concerning genetic diseases:
■ I.e. Violation of ‘sanctity of life’
■ BUT cloning tissue to produce organs/ tissues
○ Commercialisation of products including property rights: seed patency
○ Reproductive issues
■ Larger societal issues raised with reproductive technologies
■ Saving frozen embryos for later uses
■ Preventing genetic disease alleles from being passed on (reduced %)
○ Uncertainties associated with gene tests
○ Conceptual and philosophical implications (Free will vs. genetic determinism)
○ Health and environmental issues concerning genetically modified foods