Module 6 ‘Genetic Change’ Notes HSC

MODULE 6 – GENETIC CHANGE

MUTATION

HOW DOES MUTATION INTRODUCE NEW ALLELES INTO A POPULATION?

• explain how a Mutation = a random/unpredictable change to DNA

range of Mutagens = environmental agents that modify the DNA sequence à mutations
mutagens - DNA undergoes structural change in base pairing because of mutagenesis
§ Main genes where mutations cause cancer: proto-oncogenes (DNA repair genes) and tumour suppressor genes
operate, including
but not limited to: Electromagnetic Radiation Sources
- electromagnetic Definition Radiating energy in which the frequency of the wavelengths cause mutations
radiation sources Description Ionising radiation has enough energy to break chemical bonds in DNA and free electrons from atoms or molecules due to shorter wavelengths and higher energy frequencies
- chemicals Example UV radiation from sunlight à skin cancer:
- naturally - Pyrimidine dimer mutation results in adjacent pair of bases (2 thymine or 2 cytosine) on the same
occurring strand become attached to each other. This prevents them from pairing with bases on the
complementary strand, causing the strand to end prematurely. This prevents replication and
mutagens
transcription, affecting both the cell cycle and gene products à doesn’t allow

Chemicals
Definition Chemicals that cause mutations if cells are exposed to them at high frequencies or for a prolonged period.
Description These are usually structurally similar to bases in DNA and are often incorporated into DNA during replication → mispairing results in production of non-functional protein,
impairing cellular processes
- INTERFERES WITH CELL CYCLE
Example - Bromodeoxyuridine (5-BDU) – tricks. Polymerase into thinking it is thymine à inhibits (stops) cell replication
- Polycystic Aromatic Hydrocarbons – found in deposits of coal or oil, and produced when fuel is burned, found in plastics, pesticides and cigarettes
§ PAH induces oxidative stress that provokes mutation – causes cancerous tumours à a base analog (can replace bases during DNA replication)

Naturally Occurring Mutagens

Definition Mutagenic agents that are present at normal levels in natural environment and the likelihood of such mutations increase with exposure and frequency
 Module 6 ‘Genetic Change’ Notes HSC

Description Biological mutagens may trigger cancers from causing DNA damage and reducing the efficiency of DNA repair systems (releasing free radicals - oxygen species that cause
oxidative stress à smoke)
Example Biological (naturally occurring à produced by living things):
- Viruses – replicate by inserting their DNA into host cells. This creates a disruption in normal cell function, and may lead to lasting mutational changes
- Bacterial infectious – can induce inflammation, which may reduce efficiency of DNA repair systems, increasing the rate of mutations
- Transposons – sections of DNA that spontaneously fragment and relocate within the genome and can disrupt DNA sequencing and functioning when inserted into
chromosomal DNA
- Aflatoxin à a mould that is grown on grains and is a toxic mutagenic substance
Non-biological (naturally occurring in the environment) → metals such as mercury and lead = ionising radiation that is naturally occurring à breaks down the double helix of
DNA within a cell
• compare the
causes, processes Point Mutations (and frameshifts) Chromosomal Mutations (block mutations)
and effects of Definition A change to a single base in DNA, and can alter the function of the protein encoded by Blocks of genes are deleted, duplicated, inverted or translocated to another
a gene chromosome
different types of
Causes Changes the amino acid sequences, and possibly the polypeptide protein produced Can change the overall structure or the number of chromosomes in a cell is altered
mutation,
Processes Point mutation Changes in Chromosome Structure
including but not
Single base substitution Description
limited to: Definition A point mutation in which one base is replaced by another (TAG Deletion section of DNA removed → reduction in number of genes
- point mutation becomes GAG) à may alter the function of the protein produced - ‘Block’ deletion
- chromosomal Example Sickle cell gene point mutation that occurs in humans red blood cells = Insertion section of DNA is duplicated and inserted. Effects on phenotype is
mutation sickle cell anaemia. dependent on size of the duplicate, location on chromosome and
- It is a ‘missense mutation’ à the AA glutamate is substituted with number of repeats
valine, alters the shape of haemoglobin and results in a sickle shape = Inversion a piece of chromosome is removed, inverted and re-inserted so
carries less oxygen, less likely to get malaria that the sequence is in reverse order
Translocation when a section of chromosome joins with another non-
Frameshift homologous chromosome leading to gene fusion
– affects the reading frame of amino acids are one is either added or deleted
Description
Single-base Insertion The addition of a single nucleotide in a single DNA
sequence
Single-base deletion The elimination of a single nucleotide from a DNA sequence
- Triploidy = 3 of every chromosome

Chromosomal number mutations

- a mutation in which a cell contains extra or missing chromosomes
Description
Aneuploidy When an organism has an abnormal number of chromosomes –
change in ploidy
 Module 6 ‘Genetic Change’ Notes HSC

- Trisomy – an extra chromosome à trisomy 21 = downs

syndrome
- Monosomy à deletion = missing chromosome

Polyploidy Genome duplication – a cell in which there are 3 or more of each

chromosome. Fatal to humans and most animals, however, is
beneficial to plants

Effects on Most result in a base substitution → this may result in a different amino acid being Overall structure of chromosome is changed or number of chromosomes in a cell is
DNA inserted into a polypeptide during synthesis if the triplet does not code for the same altered
acid as the original codon
Change in chromosome number:
FS → the insertion or deletion of a base may shift the entire ‘reading frame’ of RNA if Aneuploidy occurs when an organism has an abnormal number of chromosomes -
not a multiple of 3 (as codons are triplets), leading to a non-functional protein change in ploidy
- Down syndrome = extra chromosome 21
Effects on Silent mutations: when the altered base codon triplet codes for the same amino acid, Dependent on whether the mutation induced is neutral/silent, or potentially fatal
Phenotype leading to no phenotypic change (missense, nonsense)
Missense mutations: the amino acid change affects the protein being produced
Nonsense mutations: changes the amnio acid to a stop codon, cutting the protein Non-disjunction resulting in trisomy for X and Y chromones:
short - Turners Syndrome à only one X chromosome
§ Low hair line
 Module 6 ‘Genetic Change’ Notes HSC

§ Short stature
§ Kidney

• distinguish Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are affected)
between somatic Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will be affected)
mutations and
Somatic Mutations Germline-mutations
germ-line
Definition Mutations that occur in somatic cells (non-reproductive cells) Mutations that occur in a gamete or gamete producing
mutations and
- skin cells, lunch cell, muscle cells, nerve cells etc. cells
their effect on an Cause - can be caused by spontaneous mutations due to DNA - Causes can be the same as for somatic
organism replication errors prior mitosis mutations.
- Usually caused by environmental factors (external mutagens) - They can also be caused by nondisjunction during
= skin exposure to UV radiation meiosis (see notes on chromosomal mutations).
Effect on - Somatic mutations will be passed on to daughter cells, and - Germ-line mutations have little effect on the
organism amplified à observable phenotypic difference in the tissue individual who gave rise to the mutation as they
- The mutations only affect the cells that are produced by only affect gametes produced.
replication of the cell that mutated - These mutations are passed onto offspring à As
- Somatic mutations are not passed on to offspring as they are the embryo forms, the mutation is replicated via
not associated with gametes in any way, à no new alleles mitosis in every cell of the embryo, affecting all
being introduced into a population cells in the resulting offspring (including
- The earlier a mutation occurs, the greater its effect will be gametes).
on an organism’s phenotype - Germ-line mutations can lead to the generation
§ Cancer is a common result of somatic mutations – as of new alleles within a population
affected cell divides, a specific area of tissue with the § E.g. sickle-cell anaemia, cystic fibrosis,
mutation may develop, but the mutation will not alter colour blindness
the genetic composition of other cells
Example - A mutation of the tumour suppressor genes such as BRCA1 - Albinism – germline mutations can change the
and BRCA2 which encode a protein that regulates the cell gene pool of a population, as they introduced
cycle à could lead to cancer but won’t be passed on to new alleles int the population
offspring
 Module 6 ‘Genetic Change’ Notes HSC

Summary Somatic mutations within individuals differ in their effect. While Germ-line mutations can be a direct source of new alleles at a population level because they can be passed
they may or may not lead to phenotypic changes in the individual, on to future generations of a species. If these new alleles are expressed as differences in phenotype, they
they do not generate new alleles within a population as they can be acted upon by selective pressures in the environment (natural selection). Undesirable mutations will
cannot be inherited by offspring. be removed from the population (they decrease chances of survival) and beneficial mutations that increase
chances of survival will become more prevalent over time.
• assess the = maintaining the integrity of DNA is essential for cell functioning.
significance of
‘coding’ and ‘non- Coding DNA Non-coding DNA
Definition DNA that codes for proteins DNA that does NOT code for proteins
coding’ DNA
- Exons = coding DNA - introns = non-coding DNA à effect gene expression
segments in the
Mutations in region Directly affects the sequence and type of amino acids in a protein and Scientists have recently discovered the fatal consequences of mutations in non-
process of of DNA therefore its function, which may lead to a phenotypic change. coding DNA, especially in those that have a regulatory function.
mutation Assess its Mutations of genes in coding DNA becomes serious when proteins involved in Gene expression
significance in DNA repair are affected. These enzymes are responsible for correcting errors in Despite there being no protein end-product, non-coding DNA contain regulatory
process of mutation the sequence of bases, and if affected, will increase the chance and rate of sequences that promote ‘switch-on’ or ‘switch-off’ genes and code for products
mutations arising from errors in replication. other than proteins such as rRNA and nuclear RNA, which have important functions
in the process of gene expression.
Mutations in tumour suppressor genes may be carcinogenic and mutations - Small nuclear RNA determines which introns are spliced out of DNA
that trigger proto-oncogenes can reduce cell death by promoting cell division, - rRNA is the machinery that regulates translation of DNA
which can be fatalistic to an organism’s survival.
Embryonic development
Research also showed that such mutations in germline cells were linked to
developmental and congenital abnormalities (birth defects)

Disease susceptibility
Some mutations in regulatory DNA (enhancer, promoter, silencer) are associated
with higher predisposition to non-infectious and infectious disease
- Obesity, heart disease → non-infectious

Only if a mutation occurs in the exon will it be copied into the RNA by the DNA
polymerase and translated at the ribosome and will have significance
Summary Mutations in coding regions are highly significant in terms of generating new alleles in a population. By definition, genes are coding regions, and alleles are different
versions of those genes that arise due to mutations. Conversely, mutations in non-coding regions may have a significant impact on gene expression, however they have
no role in the introduction of new alleles due to the fact that they are not changing the genes themselves in any way.
- Missense mutations – a mutation in which the wrong amino acid is encoded à the change to the DNA results in a protein that is also changed
- Nonsense mutations – a point mutation which creates a stop codon and the polypeptide have no more amino acids added to it
- Silent mutations – a point mutation in a coding region of the DNA which despite being in an exon, produces no change to the polypeptide encoded, as the genetic code is degenerate

Junk DNA → serves neither protein-coding or regulatory function. Research has suggested its origins from viruses where transposons and retrotransposons introduce variation and keep the
genome diverse in a population.
 Module 6 ‘Genetic Change’ Notes HSC

• investigate the Genetic variability is crucial in populations as minimal variation may create a static and unchanging population susceptible to extinction in the future by natural selection.
causes of genetic
variation relating Definition Process How variation is increased
to the processes Fertilisation Occurs during sexual - Paternal and maternal gamete fuse to form a zygote - Random selection of gametes
reproduction when 2 gametes - The full set of chromosomes is restored (23 pairs, 46 in - Interaction of dominant and recessive genes from
of fertilisation,
combine to form a zygote. total) chromosomes of 2 different parent organisms
meiosis, and Meiosis The formation of gametes - The production of gametes (sperm and ovum) - Mutations during DNA replication – interphase
mutation - One parent cell becomes 4 daughter cells, each with half - Random segregation – alleles randomly separate
the number of required chromosomes (one chromatid of - Independent assortment – in metaphase one it shuffles the
each chromosome) paternal and maternal alleles (chromosomes) resulting in
alleles for different traits unrelatedly sorted into gametes
- Crossing over – when homologous chromosomes exchange
genetic material in meiosis, this allows the recombination
of alleles or new combinations of alleles
Mutation Occurs during DNA replication - Somatic or germ line mutation introduce new alleles. Mutations increase the number of alleles for a trait.
prior to cell division; result in - Mutation in an exon à the polypeptide produced may not - Germline mutations that have remained in the genome
new alleles (not just a work, or may work less well, or work differently
rearrangment) § Can be advantageous or disadvantageous Affect the composition of gene and proteins
- Mutation = source - Positive à more effective enzyme or desirable trait
of new alleles - Negative à extinction of the organism
• evaluate the Factors that cause changes in allele frequency within a Population
effect of Description Effects on the Gene Pool of Population Evaluation
mutation, gene Mutation Changes in the DNA sequence during meiosis that Very few mutated alleles are advantageous and selected to increase in frequency – this Creates new alleles and
flow and genetic leads to the formation of new alleles is because if an environment is stable and an abnormal phenotype is introduced into the increases the gene pool of a
- new alleles can only be introduced into the population, it is highly likely that the mutation will not benefit the organism’s survival. species = can be
drift on the gene
gene pool of a species by mutation - Deleterious mutations are usually acted upon by natural selection and advantageous or
pool of removed from the population. disadvantageous
populations - Neutral mutations are considered an ‘evolutionary back-up’ as they can
provide variations that have no immediate effect but may provide a selective
advantage in the future if sudden changes to the environment were to ensue.
Gene The transfer of genetic information from one - Add gametes/alleles from a population - increase variation It is very significant as it can
flow population into another by migration - Take away genes/alleles from a population - decrease variation lead to evolution
- Involves existing individuals leaving and - Overall - change the allele frequency
new ones entering the population by - If individuals can enter and leave the population it can create a gene flow and
migration and immigration. Does not in
necessarily have to be of the same species.
Genetic Change in allele frequency due to random chance Removing alleles by removing ones carrying the alleles It is very significant as it is a
Drift which may not necessarily be of benefit to the 1. Bottleneck Effect – an example of genetic drift in which the frequency of mechanism for evolution, as it
surviving alleles. alleles is changed due to a near extinction event may have no effect but it may
 Module 6 ‘Genetic Change’ Notes HSC

- The remaining individuals in a population 2. Founder Effect – individuals becoming geographically isolated from original also have an irreversible,
may not be an accurate representation of population = not an accurate representation of the entire population detrimental effect.
the allele and genotype frequencies of the - The formation of a new population by a non-representative sample of
original. individuals from the parent population

Gene pool – the total number of alleles of all genes in a population of a species at a particular time = diversity of a species
- Allele frequency à the relative frequency of an allele at a particular gene locus in a population
 Module 6 ‘Genetic Change’ Notes HSC

GENETIC TECHNOLOGIES

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
- The aim of reproductive technologies is to pass on desirable characteristics to the next generation
Reproductive Uses Advantages Disadvantages Example
Technology
Selective Process whereby humans can control which - Hybrid vigour – healthier - Relies on chance – if desirable characteristics end up in the new Selectively bred Friesian
Breeding males and females are bred and produce offspring with enhanced individual. bulls and jersey cows =
offspring with desirable traits. Both parent characteristics from parents - Time consuming and costly – no guarantee for success of mating, produce larger amounts of
individuals are different varieties of the same - Improved quality and longevity requires transportation of whole animals, risk of injury while mating creamy milk
species so that the resultant offspring is of livestock - Reduce genetic diversity – selectively bred organisms are being
fertile. reproduced in preference to wild organisms (wild organisms have more
genetic variation)
Artificial Collecting sperm from a chosen male with - Cost-effective and reduces the - Costly – specialised equipment - Sheep = produced higher
Insemination desirable characteristics and artificially danger to animals of injury in - Time consuming wool yield or improved
introducing it into several selected females. transit or during mating - Injury to the female if not carried out correctly meat
- Livestock industry = animals - Semen can last a long time and - Genetic diversity is reduced – offspring of a herd have same father
- Fertility treatment = humans inseminate many females = (alleles in the gene pool reduced) - Cattle = better quality
many offspring - Specific alleles of a few selected genes will become predominant in the meat or greater milk
- Used in conservation to herd and alternative alleles will be lost production
increase endangered species - There is a high chance that a disease could have a devastating impact
on the herd
Artificial Removing the stamens of a flower and - Offspring with desirable - Reduced biodiversity – overuse can lead to crops that are too similar - disease resistant fruit
Pollination dusting the pollen on the stigma of another characteristics can be passed - Not ensure desirable traits - Greater yield of crops
flower on the same or different plant of the onto future generations
same species - New trait varieties
In Vitro Egg is fertilised outside of the female - Favoured when there is - Reduction in genetic diversity – large numbers of viable embryos are produced from a small selection
Fertilisation and in a petri dish. Resulting zygotes are decreased fertility in one or of parents
(IVF) cultured until they have progressed to an both parents - Genes for infertility that would not have been passed on are now inherited by offspring – these
early stage of development. The fresh/frozen - Avoid disease and birth defects alleles will further increase in the population rather than being selected against by nature.
cultured embryo is inserted using a catheter = genetic screening of embryos - Trial and error = death of some embryos
into the uterus of the biological mother. - Expensive
Gene Therapy Involves inserting a normal allele for a
dominant trait into cells of a person suffering
from a recessive genetic condition like SCID
 Module 6 ‘Genetic Change’ Notes HSC

● compare the processes Processes Outcome Assessment

and outcomes of Artificial Collecting sperm from a chosen male with desirable - Transporting frozen sperm – cost-effective - Reduces biodiversity – use of sperm from one male
reproductive Insemination characteristics and artificially injecting it into and reduces risk of injury in transit or during - Conservation programs - to save an endangered
technologies, including females to induce pregnancy mating species for rapid and human-controlled fertilisation
- Livestock industry = animals - Many females can be inseminated by the - Costly – specialised equipment
but not limited to:
- Fertility treatment = humans sperm of one male
– artificial
insemination TOY STORY BULL – gave sperm to 5 million females
– artificial and genetic diversity decreased
pollination Artificial Removing the stamens of a flower and dusting the - Creation of new varieties = higher-quality - Gives the breeder total control of which breeds are
Pollination pollen on the stigma of another flower on the same traits crossed
or different plant of the same species - Hybridisation: e.g. Maize (corn) is a hybrid - Increased susceptibility to disease and other
with an increased germination rate, greater abiotic/biotic stresses
uniformity and increased yield - Decreasing dependence on biotic pollinators can
interfere with natural ecosystems
● investigate and assess Gene Cloning Therapeutic Cloning Whole Organism Cloning
the effectiveness of Definition Producing identical copies of one gene (recombinant Cloning techniques developed to produce therapies for Creation of a new molecular organism that is
cloning, including but DNA) disease. Involves the production of stem cells genetically identical to its parent
not limited to: genetically identical to the donor which may be used to - artificial, embryo-splitting à animals
treat diseases à diabetes. - cuttings à plants
– whole organism
Process 1. The target gene is identified and cut from the source 1. A nucleus containing genetic material is removed Derived from the somatic cells of a mature organism by
cloning organism using restriction enzymes (enzymes produced from a cell of a patient the process of SCNT (somatic cell nuclear transfer)
– gene cloning by bacteria) 2. The genetic material is inserted into a denucleated
2. Plasmids are isolated from the bacteria egg cell 1. Somatic cell is extracted and starved of nutrients to
3. The restriction enzymes ‘cut’ DNA, breaking the 3. This new cell begins to divide stop cell division in a laboratory
hydrogen bonds. These enzymes create sticky ends 4. After a couple of days I would have divided into an 2. Egg cell from another organism is enucleated using a
sequences of overhanging single-stranded DNA embryo, and embryonic stem cells can be removed micropipette (nucleus is removed)
4. The complementary sticky ends from the target gene 5. These stem cells are cultured in a way that they 3. Somatic cell is inserted into the enucleated egg cell
and the plasmid connect through base pairing affinity, remain in the undifferenced state and treated with electricity, forcing them to fuse
and annealed using DNA ligase 6. These cells will be genetically identical to the cells of together to form a ‘fertilised’ egg cell
5. The new recombinant plasmid is reinserted into host the patient whose DNA was used 4. Electric shock triggers cell division and embryo
bacteria through transformation develops in-vitro
6. The host bacteria expressed many copies of the 5. Embryo is implanted into surrogate
target gene, producing large amounts of target protein - Dolly the sheep
(insulin). This protein can be extracted from the cells,
purified, and used in humans
- yea producing gene
Effective MOST EFFECTIVE EFFECTIVE IF DONE PROPERLY LIMITED EFFECTIVENESS
assessment Allows genes that are lacking in certain organisms to be - The produced organism is not strictly
amplified at a relatively fast and efficient rate identical to the parent organism as somatic
 Module 6 ‘Genetic Change’ Notes HSC

- E.g. human insulin growth hormone Due to using pluripotent stem cells, they can grow into cells are the source of genetic material, any
- Time-efficient any kind of cell in the body and treat many diseases by mutation acquired in that cell will be passed
replacing dysfunctional cells. down
- Mitochondria present in the cytoplasm of the
No risk of immunological rejection as the cloned cells donor egg contains DNA which is passed onto
are genetically identical to the patient. However, 100s the cloned organism. Therefore, the clone
of attempts are needed as the eggs fused with the has a different mitochondrial genome from
somatic nuclei are not stable and often do not its target parent organism
propagate. - Environmental factors also influence
phenotype
- Very expensive and time-consuming process,
so its effectiveness is limited
Ethical WHOLE ORGANISM CLONING:
considerations - Exacerbation of pre-existing low animal welfare in large-scale farming practices
- Same techniques used in animal and human cloning raises moral, legal and religious concerns
- Religious perspective à certain religions prohibit activities that uphold humans as superior over animals
- Unforeseen health risks and consequences
- Is not cost-efficient - raises issues of equity of access
● describe techniques - Recombinant DNA technologies aim to insert a gene from one species into the genome of another
and applications used - Transgenic Species have a gene from another species. Method is:
in recombinant DNA i) Restriction Enzymes are used to cut DNA in specific places. These enzymes are also known as gene scissors or gene shears.
ii) Restriction enzymes form 'sticky ends' at the extremities of gene of interest
technology, for
iii) The gene is interest is then multiplied by PCR or use of plasmid in bacterial cell.
example:
- the development Industry Transgenic Technology
of transgenic Agriculture BT COTTON
organisms in A transgenic plant species with a gene from a bacterium which codes for a protein, for it is eaten by a caterpillar, it is converted to an active form the kills the caterpillar
agricultural and - The Bt gene is cut from the soil bacterium (Bacillus thuringiensis) and transferred (pasted) into cotton plant embryos. This is done using a second bacterium
medical (Agrobacterium tumefaciens) as a vector
applications - Once the gene is inserted, the transgenic cotton plants produce a protein which kills the caterpillar which was eating the cotton plant

Short Term Long Term

Increases biodiversity à the characteristics allow them to survive and pass on Loss of biodiversity à as the same characteristics are being passed on each
favourable characteristics generation
Medical INSULIN
- Target the human insulin gene, then remove a plasmid from the bacterial DNA and insert the human insulin gene into the plasmid
- The plasmid is then returned to the bacteria, and put the recombinant bacteria in fermentation tanks
 Module 6 ‘Genetic Change’ Notes HSC

- They then use the gene to produce human insulin, this is purified and used as a medicine

● Evaluate the benefits Agricultural Medical Industrial

of using genetic - Crops and animal varieties that are better suited for - Help individualise treatments - GM plants to produce environmentally friendly
technologies in their environment - Pharmaceuticals developed faster, more efficiently chemicals that can replace non-renewables
agricultural, medical, § high salinity or drought and better suited to humans § plastics
- Plants that are pest resistant § Human Insulin for diabetic treatment through - GM plants and bacteria to absorb heavy metal
and industrial
§ Bt cotton recombinant DNA, rather than use of pig or cow pollution
applications - Enhanced nutrient levels insulin.
§ Golden rice à increase vitamin A, and reduce - Monoclonal antibodies (MAB’s) artificially produce
malnourishment antibody producing cells that target specific antigens.
- Larger and faster growing GM animals. § Helpful for cancer treatment where body is
§ Atlantic salmon à recued need for intensive supported to produce antibodies for cancer cells
farming
● Evaluate the effect of Biotechnology may increase or decrease the genetic diversity
biodiversity of using - Short term à introduced genes broaden the gene pool in a population
technology in - Long term à if selected desirable genes constantly replace other varieties of genes, genetic diversity will decrease.
agriculture
Example – Genetically modified soybeans
- Short term à GM soybean has increased biodiversity because an additional gene (from Agrobacterium tumefaciens which make them resistant to the herbicide glyphosate) has been
added to the gene pool.
- Long term à widespread use of GM soybean in USA, Brazil, Argentina and possibly other countries will decrease biodiversity because more GM soybeans crops will be grown rather
than the old varieties.
● Interpret a range of Social Economic Cultural
secondary sources to – the physical and social setting in which people live – the research and development of genetically modified food – shared meanings, ideas, beliefs and characteristics of
access the influence - The biotechnological techniques include the wealth is huge people that make ups society
of social, economic of the individual and the economic status of the - Advantage – produced in greater volumes for the - The values and religious beliefs may influence their
country same or less cost, so the farmer receives greater opinions about biotechnologies
and cultural contexts
financial returns and the consumer pays less
on a range of - Disadvantage – small-scale farmers in developing
biotechnologies countries cannot afford to buy the seeds of
genetically modified crops = unequal distribution of
 Module 6 ‘Genetic Change’ Notes HSC

wealth between developed and developing

countries
Example à DNA Fingerprinting Example à GM Atlantic Salmon Example – Christian views of IVF
- Advantage – investigators can solve problems with Produce greater volumes than the natural species = cost of - IVF was frowned upon by members of religious
a high degree of accuracy GM salmon is reduced and income of farmers can increase traditions as the process was seen as “playing God”,
- Disadvantage – expensive and time consuming and which was deemed an unnatural and immoral
may not be available in all parts of the world ability
Ethical issues à potential discrimination, as well as privacy
and ownership.

Biotechnology Increasing Biodiversity Biotechnology Decreasing Biodiversity

1. In the short term, GM crops and organisms will add 1. In long term, GM crops and organisms with dominate over population due to favourable characteristics, reducing variation.
diversity to populations 2. Can bring overexploitation of animals
2. Biotechnology can bring back lost characteristics 3. Selective breeding may breed out native characteristics.
through DNA cloning
3. Selection of suitable breeding partners through genetic Eg Bt Corn contains gene Bacillus thuringiensis in its genome which releases toxins whenever caterpillars feed off of the crops. In result, caterpillar population
monitoring will improve birth rates declines in ecosystem, disrupting food web and leading to further organism loss.
4. DNA profiling allows the tracking of poachers to a
specific location. Also, artificial insemination decreases genetic variation and hence biodiversity as one males sperm can be preserved and used for large amounts of offspring.

BIOTECHNOLOGY

HOW DO GENETIC TECHNIQUES AFFECT EARTH’S BIODIVERSITY?

● investigate the uses and applications of biotechnology (past, present and future), including:
Biotechnology – any technology that utilises biological systems, living organisms, or parts of this to develop or create different products
- Involves the use of genetic techniques to study genetic phenomena and apply refined knowledge of biological processes to make efficient use of technologies.

Uses and applications of biotechnology

Past Present Future
 Module 6 ‘Genetic Change’ Notes HSC

Use Ancient Biotechnology – limited Classical biotechnology – Pasteur and Modern biotechnology – discovery of DNA and its Advances in genomics, and how proteins are expressed in
understanding of biochemical Mendel manipulation cells will be used for infectious diseases, cancer, and other
processes (1000’s of years ago) (1800-mid 1900’s) genetic disorders
Application - Food production – use of Pasteur –fermentation was not a - DNA manipulation – splicing, amplification, - The manufacture of synthetic cells and organs,
living cells to make bread, chemical but a biological process recombinant DNA and the transplantation of organs from animals
cheese and wine - Agriculture - DNA analysis/visualisation – gel electrophoresis, into humans
- Medicine and antibiotic DNA sequencing and profiling - Using CRISPR, genes can be spliced and inserted
production - Biofuels – renewable and produces less pollution with pinpoint accurcay

Past Biotechnology
Description Example
Agriculture Selective breeding – the human manipulation of living organisms, Friesian cows à larger and produce more milk yields than Jerseys
ensuring selected individuals possess desirable characteristics that Jersey cows à more nutrient rich and creamier milk
could be passed onto the future generations - In the 1980’s cross breeding of the hybrid vigour offspring occurred
- Stronger and healthier offspring = catering for the
increase population
Food Fermentation is the use of microorganisms ie bacteria or yeast to Ancient wheat à small grains and the seeds easily fell to the ground, less chromosomes and gluten content
Production chemically breakdown a substance. Since Ancient Egypt, this has - higher nutritional content and increased crop yield, however, cannot reproduce without human intervention
been used to make bread, cheese and yogurt. Modern wheat à more chromosomes and a higher gluten content due to genetic modification
Medicine and The culturing of fungi in medicine led to the development of 1. Turmeric à used to improve circulation, and has many anti-inflammatory benefits
antibiotic modern-day antibiotics such as antibiotic penicillin which inhibits 2. Penicillium (fugus) à an antibacterial product which has revolutionised the treatment of infectious diseases cause by bacteria
production the growth of Staphylococcus. § Both remedies are still used today
Plant Advantages Disadvantages
selective - Bigger flowers - Loss of variety in species
breeding - Higher nutrient values - No control over genetic mutations
techniques - Increase crop yield - Lack of biodiversity = harder to adapt to selection
- Greater resistance to disease and drought pressures

Present mendnology
In present day, biotechnology revolves around genetic engineering which involves manipulating an organism’s DNA to meet needs – cutting and pasting DNA.
Description
Reproduction • IVF; involves forming a zygote outside of the women in a laboratory
Technologies • Artificial Insemination; the deliberate introduction of sperm into a female’s cervix to achieve pregnancy by other means than intercourse – decreases biodiversity as one male’s sperm may be used
to impregnate multiple females, spreading one genome.
• Artificial pollination; Humans deliberately induce the pollination process by placing pollen on pistil – this decreases biodiversity as only pollen that produces desirable yield will be used.
• Cloning; creating genetically identical replica of individual – decreases biodiversity as same genome is replicated.
Gene Involves removing faulty genes through DNA splicing and replacing it with a functional gene. This is to treat disease ie cystic fibrosis or sickle cell anaemia.
Therapy • DNA splicing: The required gene or section of DNA is spliced out using restriction enzymes.
• DNA amplification: A polymerase chain reaction uses DNA polymerase enzyme to replicate DNA fragments many times
 Module 6 ‘Genetic Change’ Notes HSC

• Recombinant DNA: DNA ligase enzyme is used to “glue” pieces of DNA together.
Eg Aquaculture where transgenic salmon grow faster and oysters are disease resistant.

Future Biotechnology
Description
CRISPR CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats, which is a bacterial defences system that forms the basis for CRISPR-Cas9 genome editing technology.
- Scientists can permanently modify genes in living cells and embryos, and in the future, may make it possible to correct mutations at precise locations in the human genome to treat genetic causes
of diseases
- It can be done efficiently and at low cost. It is now universally used in laboratories worldwide.
§ E.g. Cystic Fibrosis
Steps involved
STEP 1 – Targeting Scientists introduce the Cas9-guide RNA complex into a cell (in this case, a human cell), where it randomly
associates and dissociates with the DNA. Cas9 recognizes and binds to a three-nucleotide sequence motif called
PAM that is abundant throughout the genome.

STEP 2 – Binding Once it binds to a PAM motif, Cas9 unwinds the DNA double helix. If the DNA at that location perfectly matches a
sequence of about 20 nucleotides within the guide RNA, the DNA and matching RNA will bind through
complementary base pairing.

STEP 3 – Cleaving The DNA-RNA pairing triggers Cas9 to change its three-dimensional structure and activates its nuclease activity.
Cas9 cleaves both DNA strands at a site upstream of PAM.
 Module 6 ‘Genetic Change’ Notes HSC

STEP 4 – DNA Cells contain enzymes that repair double-stranded DNA breaks. The repair process is naturally error-prone and
Repair will lead to mutations that may inactivate a gene. Cleaving DNA at a precise location is one of many applications
of the CRISPR-Cas9 technology.

Benefits Limitations
- Simplicity and efficiency à Since it can be applied directly in embryo, CRISPR/Cas9 - The effect of off-target can alter the function of a gene and may result in genomic
reduces the time required to modify target genes instability, hindering it prospective and application in clinical procedure.
- There is still occurrence of off-target with 3 to 5 mismatches within the distal part of the
PAM
● Analysing the social Agricultural
implications and Description Social Implications Ethical Implications
ethical uses of Bt A transgenic plant species with a gene from a - The patenting of seed may place certain farmer’s - Plants rely on the transfer of pollen, via insects or
biotechnology, Cotton bacterium which codes for a protein, for it is eaten by who cannot afford product at a disadvantage – the air, to breed and produce offspring, and it's
a caterpillar, it is converted to an active form the kills they will not sell as much product and will have difficult to control how they crossbreed in the
including plant and
the caterpillar to invest in manual pesticides. wild à herbicide resistant weeds
animal examples
Atlantic Creating a transgenic species as they isolated the - The salmon may escape the filtrations and cross - Crossbreeding with wild populations àpreventing
Salmon gene from the ocean pout and that protein activated bred, however there is a very low possibility as genetically modified versions from mixing with
the growth hormone gene to allow the salmon to they have been sterilised meaning they are the naturally existing populations of plants from
grow faster all year so that the needs of the unable to bred with wild salmon, and have a low which they're derived.
population will be met earlier chance of surviving in the wild
1. Identify gene in ocean pout
2. Cut out the gene and copy it using PCR and paste it
into the developing eggs (fertilised eggs) so that the
gene can be replicated

Industrial
Description Social Implications Ethical Implications
Spider Refers to transgenesis where the spider’s - Advances the development of products such as bullet- - A range of biological properties are used to
Silk dragline silk gene is put into goats who then proof vests and air bags in vehicles. Additionally, the silk synthesise spider silk, including E coli, Goats,
produce the protein in their milk is helpful in manufacturing artificial ligaments, tendons, Silkworms and Alfalfa. Therefore, raising concern
eye structures and jaw repairs. to whether it is morally right to use an organism
- Prevents need for $13,000 treatment of catheter as a vehicle to benefit humans.
infection as silk coating will prevent bacterial infection.
 Module 6 ‘Genetic Change’ Notes HSC

Knock- Refers to lab mice which has been inactivated - Provides scientists with information that helps the - 15% of tested mice die due to process. Raising
out Mice or a gene has been removed and replaced medical industry better understand the gene causation of concern to whether it is moral to use the life of an
with an artificial piece of DNA. This provides a disease in humans eg cancers, obesity, heart disease. animals for the better of a human or are we equal
clues on what the role of certain genes are by - Can aid the development of therapies and drugs that to them.
observing the effect on mice. treat disease in humans

Medical
Description Social Implications Ethical Implications
CRISPR - Used to create more crops - Developing countries are supported by the developed - Gene manipulation is considered unethical by
- Cures genetic diseases countries, and rely on them à can only access the some groups in society as it’s an unnatural
- Edit genes in living cells treatment through developed countries process
- A GENE EDITING TOOL - Ethics of using a gene drive – change a species in
a short period of time and reduces biodiversity
Malaria resistant mosquitos - It can be used to change characteristics in any
Gene drive – the mosquitos carry not only species in a short period of time
the gene for malaria resistance but also the
CRISPR gene editing tool. This creates a gene
drive which increases the chance of all
offspring carrying the desired gene
- There is a gene to make the crisper
protein and the gene for resistance
- Gene editing technology as part of
its gene, and crisper replaces it
with the malaria resistant gene
Insulin - Modern highly specialised equipment which makes it - Due to the treatment manipulating the patients
treatment unavailable for people in developing countries, so they DNA, the pigs and cows are no longer farmed
can’t access insulin that is a better tolerated treated and under tight sterile conditions
placed at a higher risk
IVF

Conservation
Description Social Implications Ethical Implications
Rhino Biotechnology can be used to enhance the populations - Kept in captivity and not able to roam, increasing - Human intervention – nit a natural
conservation of threatened species e.g., African and Sumatran Rhino. biodiversity and hence the species can last longer process as it is artificial insemination
program - Breeding programs aim to maximise hybrid - Artificial genetic technologies to design individuals - Uncertain whether the rhino in captivity
vigour (crossbreeding different varieties of in species and is playing god are string and healthy enough to be in the
organisms which results in stronger, healthier - Not everyone would agree to spend money on wild with the right combination of genes
offspring than inbreeding). The Australian breeding threatened species, as some people will to allow them to survive in the wild – as
rhino project has been established and rhinos suggest on improving medical assistance for they are in zoos their environment is not
terminal disease mirrored
 Module 6 ‘Genetic Change’ Notes HSC

from Africa were brought to Monarto Zoo’s

safari park near Adelaide.
● Researching future The rapid evolution of biotechnology applications is exciting, but also potentially threatening. Genetic technologies may be used for the benefit of humankind, but there is also the possibility of
directions of the use of misuse, to the detriment of humans and the environment.
biotechnology - Does the threat of abuse of a technology mean we should not explore it further?
§ No, biotechnologies should only be used by qualified professionals to conquer an issue. There are many pro and cons, however the pros outweigh the cons

CRISPR – recent developments in biotechnology that has enormous implications for the future in a genome editing technique
- CRISPR-Cas9 is an enzyme used to snip DNA at a particular base so it can be attached to a ‘guide’ RNA that targets a specific complementary nucleotide sequence
- Genes can be spliced and inserted with pinpoint accuracy
§ Cure neurological disorders à Alzheimer’s and schizophrenia
§ The easy use and accuracy about CRISPR raises concerns about germline gene editing and the creation of ‘designer babies’
● Evaluating the CRISPR Technology
potential benefits for - Successfully tested in embryos to treat mutation that leads to heart disorder called hypertrophic cardiomyopathy.
society of research - Also used to reduce severity of genetic deafness in mice. Meaning with further research it could be applied to humans
- Creating mushrooms that don’t brown as easily or edit bone-marrow cells in mice to treat sickle-cell anaemia.
using genetic
- Can develop drought resistant crops and extinguish malaria carrying mosquitoes.
technologies
Other ways to benefit society;
- Make crops more nutritious to aid health in developing countries
- To prevent genetic disease through mutation ie Huntington’s
- Powerful new antibiotics/ anti-viral which can target specific bacteria’s
- Gene drives which can alter entire species eg eradicating malaria vectors by only allowing reproduction of males.

● Evaluating the changes Biodiversity of crops:

to the Earths Soybean or corn crops transgenic genetically engineered by Monsanto to be resistant to Roundup (herbicide) are being grown widely by many farmers instead of pure bred crops. If G.E. crops are
biodiversity due to found to be susceptible to a disease or environmental change, then there are less varieties available, with genetic variations, to survive the selective pressure
genetic technologies
Decreasing Biodiversity Conservation of Biodiversity Increasing Biodiversity
- GM crops involves selecting favourable traits and - GM crops → increased crop productivity without - GM crops can reintroduce genes that have died out
breeding them →fewer crop varieties → decreases destroying large amount of land → reduces land → increases gene pool.
gene pool and possible extinction. clearing → preserves habitats → conserves - Artificial insemination and pollination introduce
- GM animals may interbreed with native populations biodiversity. genes into a population → increases gene pool →
→ transgene becomes more abundant and other - Genetic techniques can predict the genes of increases biodiversity. HOWEVER, if these new
genes die out → decreases gene pool. offspring → helps select individuals for breeding genes have favourable characteristics that aid
 Module 6 ‘Genetic Change’ Notes HSC

- Genetically modified plants can adversely affect programs → helps endangered species e.g. survival, the introduced genes will outcompete the
organisms such as bees Northern quolls were endangered natives which decreases biodiversity.
- GM organisms pose a risk through breeding or - Biotechnology increases conservation methods
cross-pollination, with potential for invasive species such as biofuels made of renewable alternatives to
to develop in wild with GM characteristics eg fossil fuels.
herbicide resistance.

Genetic Technology Effect on Biodiversity

Artificial • Can increase by introducing new genes into females which makes an unusual genetic combination
Insemination • Decreases Biodiversity if one male’s sperm is used to fertilise multiple females. Therefore, limiting the genetic combinations found in the species zygotes.

Artificial Pollination • Can increase by introducing new genes to plants

• Decreases Biodiversity if one favourable pollen will be used among farmers to fertilise many plants due to greater quality or yield produced.

CRISPR • Can increase biodiversity by introducing new genes which code for new traits in population.
• However, can also decrease Biodiversity by creating species variant that aid survival and takes over allele frequency.
• Can also reduce by manipulating whole species through gene drives.

Cloning • Decreases biodiversity by genetically replicating an individual and preventing the unique combination of gametes.
• Can also conserve and increase frequency of rare alleles in population by making replica’s.

re. This may cause the species to die out.