Biology Module 6 Genetic Change - Malika Kapoor

Syllabus
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Mutation
Inquiry question: How does mutation introduce new alleles into a population?
1. explain how a range of mutagens operate, including but not limited to:
1.1. electromagnetic radiation sources
1.2. chemicals
1.3. naturally occurring mutagens
2. compare the causes, processes and effects of different types of mutation, including but not limited to:
2.1. point mutation
2.2. chromosomal mutation
3. distinguish between somatic mutations and germline mutations and their effect on an organism (ACSBL082, ACSBL083)
4. assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of mutation (ACSBL078)
5. investigate the causes of genetic variation relating to the processes of fertilisation, meiosis and mutation (ACSBL078)
6. evaluate the effect of the mutation, gene flow and genetic drift on the gene pool of populations (ACSBL091, ACSBL092)

Biotechnology

1
Inquiry question: How do genetic techniques affect Earth’s biodiversity?
7. investigate the uses and applications of biotechnology (past, present and future), including:
7.1. analysing the social implications and ethical uses of biotechnology, including plant and animal examples
7.2. researching future directions of the use of biotechnology
7.3. evaluating the potential benefits for society of research using genetic technologies
7.4. evaluating the changes to the Earth’s biodiversity due to genetic techniques

Genetic Technologies
Inquiry question: Does artificial manipulation of DNA have the potential to change populations forever?
8. investigate the uses and advantages of current genetic technologies that induce genetic change
9. compare the processes and outcomes of reproductive technologies, including but not limited to:
9.1. artificial insemination
9.2. artificial pollination
10. investigate and assess the effectiveness of cloning, including but not limited to:
10.1. whole organism cloning
10.2. gene cloning
11. describe techniques and applications used in recombinant DNA technology, for example:
11.1. the development of transgenic organisms in agricultural and medical applications (ACSBL087)
12. evaluate the benefits of using genetic technologies in agricultural, medical and industrial applications (ACSBL086)
13. evaluate the effect on the biodiversity of using biotechnology in agriculture
14. interpret a range of secondary sources to assess the influence of social, economic and cultural contexts on a range of
biotechnologies
Biology Module 6 Genetic Change - Malika Kapoor
Mutation
Inquiry question: How does mutation introduce new alleles into a population?

“Mutation is a change in the genetic material of a cell whereby the sequence of nucleotides in DNA is altered. This alteration
of DNA changes the information coded in the gene and may alter the protein or RNA end product.”

● Mutations can be deleterious (bad), beneficial (good) or conditional (depends).

● Most mutations are neutral as they occur in non-coding regions.
● Mutations to DNA can occur at the gene level (point mutations) of the normal level.
● Spontaneous mutations can occur during DNA replication when DNA polymerase makes mistakes while copying the base
sequence.
● Mutagenesis: Process of inducing a mutation.

Operation of Electromagnetic Radiation Sources

Electromagnetic radiation sources, such as gamma rays, X-rays, and ultraviolet (UV) light, have mutagenic effects on DNA, potentially leading to
genetic mutations.

Gamma Radiation:
● Characteristics: Very short wavelength (<0.1 nanometers), highly energetic.
● Source: Result of radioactive decay (unstable isotopes spontaneously disintegrate).
● Action: Gamma radiation ionises atoms, releasing electrons and causing damage to cells.
● Evidence: Marie Curie's prolonged exposure to radioactive materials led to aplastic anaemia, highlighting the mutagenic effects.
Hiroshima and Nagasaki atomic bombs also demonstrated mutations.

Ultraviolet Radiation (UV):

● Characteristics: Not visible, wavelength of 10 nm-400 nm.
● Sources: Sun, tanning beds, nail polish dryers.
● UVB Effects: Shorter wavelengths with high energy, causing mutagenic and carcinogenic damage.
F
● Common Effect: UV radiation induces the formation of pyrimidine dimers, cross-linking adjacent nucleotides on the same strand. This
disrupts normal replication and transcription, affecting the cell cycle and gene products.
Biology Module 6 Genetic Change - Malika Kapoor
Ionising Radiation:
● Characteristics: High-energy radiation capable of freeing electrons, turning them into ions.
● Action: Electrons passing through cells interact with water, generating highly reactive free radicals.
● Effects on DNA: Breaks in one or both strands of DNA occur, leading to deletions, partial chromosome loss, rearrangements, and
cross-linking within DNA.
● Consequences: Interference with cell division, gene products, and cell metabolism.

Hence, overall impact:

● Electromagnetic radiation, through ionisation and direct chemical bond disruption, can lead to changes in the DNA structure.
● High-energy waves have the potential to break bonds within the DNA, causing deletions, rearrangements, and changes to the
chemical composition.
● Indirect damage occurs through the ionisation of molecules, producing highly reactive free radicals that may further damage DNA and
interfere with cellular processes.

Operation of Chemical Mutagens

Intercalating Agents:
● Operation: Disturb hydrogen bonds, causing shape alterations.
D ● Examples: Ethidium bromide, benzo[a]pyrene (tobacco smoke).

Base Analogues:
● Operation: Substitute normal bases during replication, leading to errors.
A ● Examples: 2-aminopurine, 5-bromouracil.
Ocimilar "copycats"
Reacting Chemicals:
● Operation: Directly modify DNA structure, causing mutations.
-

● Examples: Nitrous acid, hydrogen peroxide.

Case Study - Tobacco and Lung Cancer:

● Symptoms: Cough, shortness of breath, chest pain, coughing blood.
● DNA Changes: Benzo[a]pyrene in tobacco targets p53 gene, contributing to mutations.
● Impact: Mutations in p53, RAS oncogenes lead to lung cancer.
● Treatment: Depends on early detection; may involve surgery, radiation, chemotherapy.

Additional Mutagens:
1. Radioactive Agents:
○ Operation: Release radiation affecting DNA structure.
○ Examples: Uranium.
2. Metals:
○ Mechanisms: Affect DNA repair, reduce fidelity during replication.
X
○ Examples: Arsenic, nickel.
Hence, Chemical mutagens induce mutations in DNA, posing health risks.
Awareness and regulation are crucial to minimise exposure and mitigate genetic mutation consequences.

Operation of Naturally Occurring Mutagens

1. Non-Biological Mutagens: Naturally occurring metals like mercury and cadmium.
2. Biological Mutagens: Viruses (e.g., Human Papillomavirus), bacteria (e.g., Helicobacter Pylori), fungi.

Case Studies:
1. Human Papillomavirus (HPV):
○ Action: Inserts DNA into host cells, leading to viral DNA and protein production.
○ Impact: Main cause of nearly all cervical cancers.
○ Management: Cervical screening and vaccination programs.
2. Helicobacter Pylori:
○ Association: Causes stomach ulcers and inflammation, linked to stomach cancer.
○ Effect: Long-term inflammation induces cell proliferation and mutagenic compounds.
○ Risk: Chronic inflammation increases cancer predisposition.
3. Transposable Elements:
○ Operation: DNA segments that move within the genome, causing mutations.
○ Effects: Errors in replication, interference with gene function, changes in crossover points, disruptions in chromosome
duplication.
○ Example: Corn kernels' colour variation due to transposon movement.
4. Plants & Fungi:
○ Agents: Some plants and fungi produce mutagenic chemicals.
Biology Module 6 Genetic Change - Malika Kapoor
○ Example: Aflatoxins produced by fungi on peanuts, acting as intercalating agents, causing mutations on the p53 gene.
○ Impact: Consumption may lead to liver cancer.

Natural Environmental Factors:

● Viruses: Replicate by inserting DNA into host cells, causing disruptions and lasting mutational changes.
● Bacterial Infections: Induce inflammation, reducing DNA repair efficiency, increasing mutation rates. Linked to stomach cancer in H.
pylori infection.
● Transposons: 'Jumping genes' that change position, creating mutations altering gene expression. Examples include multi-colored
maize and antibiotic resistance in bacteria

[Compare] Point Mutation Vs. Chromosomal Mutation

Point Mutation Chromosomal Mutation

Definition The alteration of one =>

or more nitrogenous bases in the DNA Large- scale changes where either the overall structure of a
sequence. chromosome is changed or the entire number of
chromosomes in a cell is altered.

Causes May have no effect on the resulting amino acid sequence More harmful as more genes would be impacted.
(silent mutations).
Frameshift mutations are more harmful as all the codons
part of the point mutation are changed.

Subtypes Base Substitution Deletion: Part of chromosome breaks of a segment is

1. Silent: A codon is changed to another codon permanently deleted. Results in genetic information.
which codes for the same amino acid. Duplication: Chromosomes are copied and a repetition
2. Nonsense: A codon is changed to a stop codon occurs. Adds more genetic information into the genome.
signalling chain termination. Truncation of Insertions: Part of one chromosome is inserted into
polypeptide. another.
3. Missense: A codon is changed to another codon Inversions: Segment of a chromosome breaks off and is
which encodes for an altered polypeptide inverted before being reinstated back into the original
sequence. location.
a. Conservative: Specify codons that are Translocation: Segment of one chromosome is exchanged
chemically similar to the original and with another segment from non-homologous
protein function is not altered. chromosomes.
b. Non-Conservative: Codons are
dissimilar to the original and often Changes in Chromosome Number
produce non-functional proteins. Nondisjunction (Aneuploidy): Total number of
Deletion: One or more nucleotides are deleted from the chromosomes changes. When pairs of fonts separate
DNA sequence. properly. Gives rise to birth defects/genetic disorders.
Insertion: Addition of a single nucleotide. Trisomy: Extra copy of a single chromosome.
Frame Shift: Change in the reading frame of a gene. These Polyploidy: Total number of all chromosomes changes e.g

sapes
mutations affect the entire DNA sequence of genes directly instead of two pairs there are three pairs.
after the point of change. Result of insertions or deletions
Down
of bases. syndrome Triomy 2,

Case Study Sickle Cell Anaemia is a result of base substitution. The Sex chromosome abnormality is a chromosome deletion of
base substitution results in thymine changing to adenine trisomy of the sex chromosomes. Turner's Syndrome:
changing amino acid sequence from glutamic acid to valine. Affects females only - when part of or the X chromosome is
Results in haemoglobin protein that aggregates within the missing resulting in a total of 45 chromosomes.
RBC causing sickle shaped Ellis that are inefficient in oxygen Characteristics include short stature and infertility.
transportation. RBC are sticky and flow poorly through the
blood vessels. Therefore capillaries can become blacked
and cells and tissues differ from lack of oxygen.
Biology Module 6 Genetic Change - Malika Kapoor
[Distinguish] Somatic Mutation Vs. Germline Mutation

Somatic Mutation Germline Mutation

Definition Changes to the DNA of specific body cells. Changes to the DNA of germline cells.

Causes Occur during mitosis, DNA replication or due to exploration Occurs during meiosis. Can be inherited by offspring, with
& of chemical mutagens or radiation. Localised effect on the every body cell of the organism carrying the mutation.
Processes individual and only affects the individual. No effect on the Mutation of germ cells are inherited when fertilisation
& evolution of a species. occurs e.g sickle cell and some cancers.
Effects Contributes to the gene pool of a species. Depends on
beneficial and deleterious nature.

Case Study UV radiation induced mutations in the skin give rise to Nondisjunction of chromosomes during meiosis may lead to
melanoma, This affects the individual and cannot be passed down syndrome with every single body cell containing
onto offspring as the mutation occurs in the skin cells not three copies of this chromosome instead of two.
the sex cells.

Process of Mutation: Significance of Coding & Non-Coding DNA Segments

Coding DNA (Exons):
● Effect: Mutations directly impact protein products.
○ Examples: Single nucleotide changes influencing protein expression.
● Eukaryotes: Mutations may influence gene splicing, modifying protein function or levels.
● Significance: Key for protein structure and function.

Non-Coding DNA (Introns):

● Normal Function: Generally spliced out during polypeptide synthesis hence should have no effect on polypeptide synthesis.
● Control of Gene Expression: Introns crucial for regulating transcription levels, timing, and location.
○ Examples: Mutations in enhancer or promoter regions causing over-expression or lack of expression.
● Abnormal Splicing: Mutations causing incorrect splicing can lead to altered protein expression.
● Germline Mutations: May result in developmental abnormalities or congenital disorders.
Biology Module 6 Genetic Change - Malika Kapoor
Significance in Comparative Genomics:
● Coding Regions: Conserved among closely related species.
● Non-Coding Regions: More variable, aiding in species comparison.
● Mutational Differences: Used to determine species relatedness.

Genetic Variation: Fertilisation, Meiosis and Mutation

● Fertilisation occurs during sexual reproduction when two gametes combine to form a zygote. Half of the genetic material of each
parent combines to restore a full set of chromosomes, allowing new traits to arise through the interplay of dominant and recessive
alleles (this may create new traits not seen in either parents).
● Random fusing of genetically recombined gametes during fertilisation increases genetic variation. Therefore, increasing genetic
variation.
● Mutation (both somatic and germline), and meiosis (in particular crossing over, random segregation and independent assortment)
has been discussed in Module 5.

[Evaluate] Effect of Mutation: Gene Flow and Genetic Drift on the Gene Pool
A gene pool is the total number of alleles for all genes found within a population of species.

Gene flow is the movement of individuals, and/or the genetic material they carry between different populations. This increases the genetic
diversity within the pollution but differences between are minimised.
● Gene flow between populations is limited by the mobility of an organism of its gametes. Barriers include:
○ Environmental structures such as ocean currents, roads, rivers or dams.
○ Genealogical events such as volcanic eruption, tornadoes and hurricanes.
● Increase in variation:
○ Horizontal gene transfer → antibiotic resistance.
○ Captive management of endangered species (great panda) → international breeding where gametes are shared between
zoos to maintain high genetic diversity.

Genetic drift is a change in allele frequencies in a population due to random fluctuations in the allele frequencies of a particular gene.
● Does not result in the formation of new alleles but can lead to loss of allele even if beneficial.
● There is a greater effect on smaller populations.
● There are special conditions under which genetic drift occurs.
○ Bottleneck effect when there is a sudden decrease in population size due to environmental factors such as disease,
epidemics, habitat destruction or natural disasters.
■ Results in a significant reduction in the total genetic diversity of the original gene pool.
○ Founder effect when a new population is established by a smaller number of individuals being separated from larger
population results in a small gene pool size in the founder population.
■ As the new population expands, the diversity of alleles does not increase.
■ Founder populations are usually small and subject to genetic drift.
Biology Module 6 Genetic Change - Malika Kapoor
Biology Module 6 Genetic Change - Malika Kapoor
Bi echnology
Inquiry question: How do genetic techniques affect Earth’s biodiversity?
Uses & Applications of Biotechnology
Past Present Future

● Selective Breeding:
○ Improving desirable traits in
● Bacterial Enzymes:
○ Agriculture, cosmetics, O● Pharmacogenomics: Studying how the
genome influences drug responses.
plants and animals. pharmaceuticals. ○ Personalised drug choices based
○ Ancient examples in crops, ○ Lactase for lactose-free milk on genetic makeup.

●
cattle, and fermentation.
Ancient Antibiotics: ●
production.
Genetic Screening: g ● Nanoscience: Applications in
agriculture, food, medicine, and
○ Mould-based treatments for ○ Identifying genetic disease risks research.
infections. in adults, embryos, and ○ Nanosensors for pathogen
○ Historical use, such as mouldy newborns. detection, drug delivery, and
bread for wounds. ● Chromosome Mapping: enhanced food properties.
○ Locating genes on a ● Synthetic Biology: Combining
chromosome for functional engineering with biological tools.
understanding. ○ Creating and testing new gene
combinations.

g● Gene Drives:
○ Modifying alleles to ensure
passage to offspring.
○ Applications in disease control,
pest eradication, and resistance
elimination.
● Biofuels: Ongoing developments for
sustainable energy sources.

[ASSES] Social Implications & Ethical Uses of Biotechnology

Positives Negatives
1. Genetic Diversity: 1. Environmental Impact:
○ Positive Impact on Evolution: ○ Unpredictable Ecosystem Consequences: Introduction of new
Biotechnology allows for the creation of genetically modified organisms may lead to unforeseen
new genetic arrangements, contributing consequences in ecosystems.
positively to the course of evolution. 2. Bioterrorism and Bioweapons:
2. Addressing Global Issues: ○ Creation of Superbugs: Governments are concerned about the
○ Poverty and Hunger: Biotechnology can potential misuse of biotechnology to create superbugs or infectious
address issues such as poverty and agents without known cures.
hunger by improving crop yields and ○ Bioweapon Threat: Biotechnologists could use bioweapons to
nutritional content. transfer diseases through explosives, food, water, or aerosol sprays.
○ Health and Wellbeing: Advances in 3. Privacy & Data Ownership:
biotechnology contribute to medical ○ Ethical Use of Genetic Information: Concerns regarding fair and
breakthroughs and improved healthcare. ethical use and distribution of genetic information.
○ Affordable and Clean Energy: ○ Risk of Discrimination: Possibility of discrimination by insurers,
Biotechnological processes can be employers, courts, and schools based on genetic information.
employed for the development of ○ Privacy Concerns: Storage, access, and distribution of genetic
sustainable and clean energy sources. information may impact patient privacy.
○ Suitable Cities and Communities: ○ Psychological Impact: Knowledge of predisposed genetic disorders
Biotechnology can enhance may lead to psychological impacts and stigmas.
environmental sustainability, contributing 4. Legal Implications:
to the creation of suitable cities and ○ DNA Fingerprinting: While accurate, DNA fingerprinting can be
communities. contaminated, leading to wrongful convictions.
○ Commercialization and Patents: Commercialisation and gene
patents may restrict access to genomic information and techniques.
○ Ownership of Genetic Information: Legal implications arise when
services that screen DNA samples have ownership of and sell
genomic information to third parties.
Biology Module 6 Genetic Change - Malika Kapoor
Positive Social Implications:
1. Medical Biotechnology:
○ Production of insulin and vaccines using recombinant DNA technology.
○ Tools like gel electrophoresis and nanoparticles advance medical treatments.
○ CRISPR technology for gene editing shows promise.
2. Agricultural Biotechnology:
○ Enhanced crops with added vitamins and reduced fat content.
○ Insect-resistant genes reduce pesticide use.
○ Increased food supply, improved nutritional value, and disease prevention.
3. Marine Biotechnology:
○ Accelerated growth in salmon through gene insertion.
○ Use of antifreeze protein genes for crop survival in cold regions.
○ Creation of glow-in-the-dark rabbits for medical research.

Ethical Implications:
1. Gene Therapy:
○ Ethical concerns arise when gene therapy affects germ-line cells and future generations.
○ Balancing health disparities and potential unknown side effects.
2. Manipulating Evolution:
○ Ethical debate on humans "playing with God" and interfering with evolution.
○ Questions about the rights of other species and biodiversity preservation.
3. Global Food Availability:
○ Ethical considerations about prioritising support for developing countries.
○ Potential impact on biodiversity with widespread adoption of genetically modified organisms.

[Researching] Future Directions of the Use of Biotechnology

1. Medicine: Enhanced Disease Treatment and Detection
○ Gene Therapy: Advances in gene therapy involve the insertion of healthy genes to replace or supplement defective genes.
This technique holds promise for treating genetic and acquired diseases like cancer and AIDS.
○ Stem Cell Research: Utilising unspecialized cells to replace diseased tissues with healthy ones, offering potential
breakthroughs in regenerative medicine.

2. Agriculture: Sustainable Food Production

○ Transgenic Crops: Continued development of genetically modified organisms (GMOs) for improved crop yields, pest
resistance, and enhanced nutritional content.
○ Precision Agriculture: Integration of biotechnological tools to optimise farming practices, ensuring sustainable and efficient
food production to meet the demands of a growing population.

3. Personalised Medicine: Tailored Healthcare Solutions

○ Pharmacogenomics: Customised drugs designed based on an individual's genetic makeup, maximising therapeutic effects
while minimising harm to healthy cells. ·

of cancer chemotherapy deling of manoparticle.

○ Genome Targets: Identification of genes associated with diseases accelerates drug discovery, leading to more efficient
development of targeted therapies.
○ Microbiome Manipulation: Tailored probiotics and microbiome engineering for improved health, disease resistance, and
potential cognitive enhancements.

4. Advanced Gene Editing: CRISPR-Cas9 Technology

○ Precise Genome Editing: CRISPR-Cas9 technology revolutionises gene editing, allowing precise modifications in the DNA
sequence.
○ Transgenic Species: Continued development of transgenic species, such as glow-in-the-dark rabbits, through gene insertion
techniques, showcasing the potential for unique applications.
○ Medical Breakthroughs: CRISPR-Cas9's ability to edit genes opens avenues for treating genetic disorders, developing
disease-resistant crops, and advancing medical research.

f
Biology Module 6 Genetic Change - Malika Kapoor
CRISPR [Clustered Regularly Interspaced Short Palindromic Repeats]
● A more efficient method of inserting/turning off genes.
● A system that has evolved in some prokaryotes to fight viruses.
● The DNA sequences include fragments of virus DNA (spacers) that have been left in the genome from previous viral infections.
● CRISPR-Cas9 is just one example, it uses spacer sequences as a template to find similar sequences in the genome and cut them.
● For human use;
○ The guide RNA (gRNA) must be provided to the Cas-9 molecule → it's a synthetic sequence that replaces the CRISPR
sequence and tells the Cas9 molecule where to cut the DNA.
○ The Cas9 enzyme will then run along with the DNA of the target cell unwinding the double-stranded DNA searching for
the sequence and then cutting it.
● Has been used for:
○ Determining which genes are responsible for cancer cells.
○ Editing crop genomes to make them drought, virus, fungi and insect resistant.
Deactivating genes that enable malaria to spread in mosquitoes.

1. Design: Choose a suitable Cas enzyme (e.g., Cas9, Cas12a). Design guide RNA (gRNA) for precise genomic targeting using pre
designed or custom options.
2. Delivery: Form a ribonucleoprotein (RNP) by complexing Cas enzyme and gRNA, delivering it to cells.
3. Repair: Break the DNA: RNP makes a cut in the DNA.
○ Cells repair the cut hastily and provide a template with specific changes for accurate repair.
4. Analysis: Evaluate mutations using gel-based methods for non-specific changes.

e.g Artificial gene drive using a CRISPR-Cas9 system: gRNA instructs Cas9 to cut at the rival allele, causing the repair mechanism to replace
the damage with the Cas9-containing allele.

Gene drive is a genetic engineering technique designed to propagate a particular gene through a population rapidly. It works by ensuring
that the chosen gene is more likely to be inherited by offspring, significantly increasing its prevalence. This technology has both potential
benefits, such as disease control, and ethical and ecological concerns due to its potential for widespread genetic alterations in natural
populations.

Gene Therapy
● Experimental technique used to treat hereditary disease at the molecular level by inserting a gene to replace the missing/defective
gene that causes the disease.
● Only available in clinical trials as of now e.g haemophilia & cystic fibrosis.
● Approaches include:
○ The viral infection affects the patient's cells by inserting the normal gene.
○ Inactivating the gene.
○ Repairing abnormal genes.
○ Controlling the expression of a particular gene.
● Can be applied to both somatic and germline cells.
Biology Module 6 Genetic Change - Malika Kapoor
Evaluating the Potential Benefits for Society of Research Using Genetic Technologies
Benefits for Society:
● Utilisation of High-Throughput Sequencing (HTS) for testing therapeutic proteins, aiding in curing diverse medical conditions.
● Gene therapy on individual and germ-line cells to cure diseases, eliminate health disparities among ethnic and racial groups.
● Aquaculture fostering the discovery of genes for new transgenic species, benefiting medical biotechnology.
● Advances in marine biotechnology enhancing crop and food yields to meet the growing world population's demands.
● Nanoparticle research in nano-medicine for efficient drug and protein transportation, such as using gold nanoparticles to edit genes.

Improved Medicine:
● Early diagnosis and intervention for diseases, enhancing community health.
● Development of new vaccines.
● Ongoing research on turning off genes to halt muscular dystrophy.
● Nanoparticles deliver anti-cancer drugs to cancer cells without harming surrounding healthy cells.

Higher Quality/Quantity Food = Improved Nutrition:

● Genetically modified crops with favourable traits, including disease and pest tolerance, efficiency, and improved quality.
● GM crops engineered with genes to increase vitamin levels, addressing malnutrition.
● Evaluation Statement:

Evaluation: Research in genetic technologies holds significant promise for society, offering advanced medical interventions, improved disease
prevention, and treatment strategies. Simultaneously, advancements in agriculture contribute to enhanced global nutrition and food security
through genetically modified crops.

Evaluating the Changes to the Earth’s Biodiversity Due to Genetic Techniques

Evaluation: The impact of genetic techniques on Earth's biodiversity is twofold, with some applications leading to a decrease in diversity while
others contribute to its conservation. Genetic technologies, particularly in biotechnology, play a crucial role in shaping the genetic, species, and
ecosystem diversity, influencing the overall health and sustainability of the planet.

[Investigate] Uses and Advantages of Current Genetic Technologies that Induce Genetic Change
Simple Selection: Simple selection involves choosing plants with desired traits, like improved taste or yield, for further breeding.
Marker-assisted selection, a modern method, uses molecular analysis to identify plants with specific traits.
● Improved quality, increased nutrition, enhanced flavour, and greater beauty in crops.
● Higher crop yields.
● Increased tolerance to environmental pressures such as salinity, extreme temperature, and drought.
● Resistance to viruses, fungi, bacteria, insect pests, and herbicides.
● Longer storage period for harvested crops.

Crossing: Crossing occurs when pollen from one plant is used to fertilise another, combining useful features. It's used to create hybrids with
desirable traits, enhancing quality, variety, and environmental tolerance.
● Improved quality of produce with desirable traits.
● Increased variety.
● Enhanced tolerance of plants towards harsh environmental conditions.
● Reduction in production costs as plants become capable of surviving in minimal conditions.
 Biology Module 6 Genetic Change - Malika Kapoor
Somatic Hybridization: Somatic hybridization involves fusing plant cells from different species in a lab, creating hybrids with genetic material
from both parents. It enables the introduction of varied traits, overcoming reproductive barriers.
● Facilitates the production of interspecific and intergeneric hybrids.
● Overcomes barriers of sexual incompatibility.
● Introduces variety and different traits such as abiotic stress resistance, disease resistance, etc.
● Production of heterozygous lines in single species not propagated by vegetative means.
● Production of unique hybrids like Cybrids.

Genetic Engineering: Genetic engineering modified organisms by integrating new genetic material, achieved through various techniques. It
accelerates maturity, enhances adaptability, and introduces specific traits, contributing to improved crops, disease resistance, and drug
production.
● Quicker maturity and increased adaptability in unfavourable growth conditions.
● Creation of resistance to common lethal diseases, enhancing lifespan.
● Development of specific traits in plants and animals for improved use or consumption.
● High yield of produce reduces global food insecurity.
● Improved quality and disease resistance reduce overall herbicide and pesticide usage.
● Contribution to the production of vaccines and other drugs.

dismor Hybridisation: Hybridisation is the interbreeding of different strains of plants or animals to produce offspring with favourable traits. It's used to
create hybrids, combining desirable characteristics from different strains.
● Production of hybrid offspring with favourable characteristics from different strains.
● Introduction of genetic variation, increasing genetic diversity.
*
Transgenesis: Transgenesis involves inserting specific genes into an organism's DNA. It starts with identifying the desired gene, using FISH
technology for precise extraction, and employing gene splicing and PCR for mass production. The result is a transgenic species with altered
traits.
● Identification and insertion of desired genes into organisms.
D ● Production of transgenic species with specific traits.
● Utilisation of FISH technology and gene splicing for precise gene insertion.
● PCR for multiple copies of the gene, enabling mass production.
● Antibiotic resistance ensures survival and growth of modified organisms.
● Contribution to the mass production of beneficial substances like insulin.

[Compare] Processes & Outcomes of Reproductive Technologies

Artificial Insemination Similarities Artificial Pollination

Process Assisted placement of sperm into the Both male and female. Assisted transfer of pollen from the male
female reproductive tract. Both processes come with a stamen to the female carpel.
1. Extraction of sperm purpose. 1. Pollen removed from stamen.
2. Processing By selecting for the few traits 2. Pollen applied to stigma.
3. Insertion in the uterus. that are desirable, limiting 3. Pollen fertilises the ovum.
genetic variation within a
Outcomes Increased efficiency of the livestock species may arise. An increase in Higher crop yield.
industry. humongous populations may Selection of desirable traits.
Limited genetic variation. cause issues for species survival Creation of new plant species.
in the long term. Monoculture,
IVF: Embryo is formed. Favourable genes are passed to Loss of biodiversity.
Allows for genetic screening of embers offspring.
to avoid disease. High costs.

Artificial Insemination Process:

● Collection Methods: Semen collected through artificial vagina or electro-stimulation.
● Preservation: Glycerol added to prevent freezing damage; stored in liquid nitrogen.
● Transfer to Gun: Thawed semen transferred to a sterilised insemination gun.
● Insemination: Gun inserted into the female's cervix or uterus through the rectum.

Outcomes of Artificial Insemination:

● Selective Breeding Technology: Produces genetically dissimilar offspring with favourable traits from both parents.
● Biodiversity Impact: Large-scale use with the same parents reduces biodiversity; controlled use increases genetic variation.
Biology Module 6 Genetic Change - Malika Kapoor
● Disease Spread Risk: Improper testing can lead to rapid disease spread.
● Cost and Expertise: Requires specialised equipment and trained personnel, making it expensive.

Artificial Pollination:
● Types: Cross-pollination and self-pollination, as discussed by Gregor Mendel.

Outcomes of Artificial Pollination:

● Genetic Variation: Cross-pollination increases genetic variation; self-pollination results in less variation.
● Biodiversity Impact: Large-scale use with the same parents reduces biodiversity; controlled use increases genetic diversity.
● Disease Spread Risk: Lack of testing can lead to disease spread.
● Cost and Expertise: Requires care and control, affecting costs.

Assess the Effectiveness of Cloning

Gene Cloning:
1. Gene Extraction: Use restriction enzymes to extract the gene of interest.
2. Plasmid Cutting: Employ the same enzyme to cut a bacterial plasmid.
3. Recombinant Formation: Anneal genes and the plasmid together using DNA ligases.
4. Bacterial Cell Insertion: Insert the recombinant plasmid into a bacterial cell.
5. Replication: Bacteria replicate via binary fission, producing numerous gene copies.

Advantages Disadvantages

● Forensics: DNA fingerprinting. ● Reduced Diversity: Lowers genetic diversity.

● Research: Study human gene functions. ● Mutation Risk: Potential mutations in cloned offspring.
● Medicine: Gene therapy applications. ● Ethical Concerns: Ethical debates surrounding cloning.
● Industry: Industrial production (e.g., insulin). ● Costly: Expensive procedures.
● Agriculture: Create modified plants for enhanced yield and
disease resistance.

Example: Cloning insulin involves isolating the human insulin gene, often from human DNA or a synthetic source, and inserting it into a plasmid.
This recombinant plasmid is then introduced into bacteria (commonly Escherichia coli) which act as "factories" for insulin production. As bacteria
multiply, they generate large quantities of insulin, providing a consistent and accessible supply for diabetic patients. This method revolutionised
insulin production, ensuring a stable and sufficient source for managing diabetes.

Whole Organism Cloning:

1. Somatic Cell Extraction: Obtain somatic cells from the organism to be cloned.
2. Egg Cell Preparation: Obtain egg cell from a female donor; remove its nucleus.
3. Cell Fusion: Fuse the somatic cell with the enucleated egg.
4. Stimulation: Stimulate cell division in the fused cell.
5. Implantation: Implant the developing embryo into a surrogate for gestation.
Biology Module 6 Genetic Change - Malika Kapoor
Advantages Disadvantages

● Genetic Uniformity: Ensures genetic uniformity in offspring. ● Reduced Diversity: Lowers genetic diversity in populations.
● Efficiency: More effective than traditional breeding. ● Cloning-Related Diseases: Risk of diseases in cloned
● Resource Reduction: Reduces the number of animals needed offspring.
for specific traits. ● Ethical Concerns: Ethical debates on interfering with
● Conservation: Enhances conservation efforts. nature.
● Genetic Line Continuation: Enables continuation of specific ● High Cost: Involves high costs for advanced procedures.
genetic lines.
● Species Protection: Aids in protecting endangered species.

Example: Dolly the Sheep, the first mammal cloned from an adult somatic cell.

Assessment: Cloning, whether gene or whole organism, provides powerful tools for various applications. While offering benefits such as
enhanced genetic traits and conservation, careful consideration is necessary to address concerns like reduced diversity, potential health risks,
and ethical considerations. Advances in cloning technologies hold promise but require responsible and sustainable implementation.
Biology Module 6 Genetic Change - Malika Kapoor
Describe Techniques and Applications used in Recombinant DNA Technology
Development of Transgenic Organisms in Agricultural & Medical Applications
Recombinant DNA Technology
● Definition: Artificial DNA formed by combining segments from different species.
● Insertion Methods:
○ Microinjection: Direct injection of DNA into cells.
○ Viral Vectors: Use of viruses to deliver genetic material.
○ Gene Gun: Propelling DNA-coated particles into cells.
○ CRISPR-Cas9: Precision gene editing.
● Technique Using E. coli and Plasmids:
1. Extract target gene using restriction enzyme.
2. Cut the plasmid vector with the same enzyme.
3. Mix an anneal gene with plasmid.
4. Ligase enzyme strengthens the bond.
5. Reintroduce hybrid plasmid into bacterial cells.
6. Binary fission yields copies of recombinant plasmid.

Transgenic Organisms: Definition: Organisms with genes from another species.

● Agricultural Applications:
○ Crop Improvement: Enhanced traits, longer shelf life, pest resistance.
○ Livestock Enhancement: Improved growth, increased yield.
■ Examples:
● Frost-resistant crops by introducing fish genes.
● Herbicide and insect-resistant crops like Bt-cotton.
● Virus-resistant crops, e.g., sweet potato.
● Nutrient-enriched crops, e.g., iron-fortified rice.
● Medical Applications:
○ Production of Pharmaceuticals:
■ Vaccines, hormones, clotting factors.
● Examples:
○ Cloning human genes for insulin production.
○ Animals producing human proteins, e.g., lactoferrin.
○ Therapeutic proteins in milk for human use.
Recombinant DNA Techniques:
● Gene Splicing for Drug Production:
○ Method: Cut target gene and plasmid, insert, ligate, replicate.
○ Applications: Mass production of drugs like insulin.
Biology Module 6 Genetic Change - Malika Kapoor
● PCR in Medical Biotechnology and Forensic Science:
○ Role: DNA fingerprinting, paternity testing, forensic matching.
○ Applications: Establishing evolutionary relationships.
● DNA Vectors and Microinjection for Transgenic Species:
○ Use: Inserting desired genes into nuclear DNA.
○ Applications: Creating transgenic plants and animals.
○ Examples: Bt crops, insulin-producing bacteria, clotting factor in sheep milk.

Evaluation: Recombinant DNA technology, employing various techniques, revolutionises agriculture and medicine. It enhances crop quality,
increases yield, and facilitates the production of pharmaceuticals. Despite ethical concerns and potential drawbacks, such as reduced genetic
diversity, its impact on creating beneficial transgenic organisms for human welfare is profound.

Evaluate Effect on Biodiversity → Biotechnology in Agriculture

● Herbicide resistant crops produced using recombinant DNA technology promotes the use of herbicides in plant fields because these
modified plants are not affected by them.
○ These herbicides may not cause harm to the modified plants but can kill native plants that feed animals and sicken
amphibians directly, causing a decrease in biodiversity.
● Due to the use of different breeding methods, wild type agricultural crops may cross with the genetically modified ones.
○ The engineered organisms often dominate, resulting in only a modified species over several generations, reducing the
diversity that is available.
○ Therefore, due to the extensive number of modified traits, the possibility of losing the genuine, wild type plants may
decrease.
● There is also concern with the nutritional value of genetically modified crops and also whether the crops are harmless to intake in
dietary form. The cause of it would be because some traits in plants are taken from microorganisms.
○ Bt brinjals and tomatoes whose insect/disease resistance comes from a gene from the bacteria Bacillus thuringiensis. Thus
whether a population of crops having a bacterial gene may make it more favourable thus decreasing the diversity due to risk
of monocultures.

Evaluate Benefits of Genetic Technologies

Application Techniques Benefits

Agriculture Selective ● Creation of crop and livestock species that exhibit favourable traits.
breeding, ● Creation of an organism that doesn’t require insecticides/herbicides detecting harmful impacts on
artificial the environment.
pollination, ● Increased food security as a solution to global poverty and food shortages.
transgenesis.

Medicine Therapeutic ● Personalised medicine leading to a preemptive diagnosis of disorders for better treatment.
cloning, gene ● Treatment of genetic diseases leading to potential cures, rather than only addressing symptoms.
cloning, gene ● Improves diagnostic tools.
sequencing, gene ● Cheaper, faster tools can be used in remote locations, increasing access to healthcare.
therapy, ELISA, ● Improved creation of important biological molecules for the treatment of disease (insulin)
CRISPR.

Industry Gene cloning, ● Increased speed of chemical reactions leading to more efficient industrial processes.
transgenesis. ● Creation of organisms which produce industrially significant products (biofuels, biomaterials,
energy).

Social, Economic & Cultural Contexts

Social has been addressed previously (privacy and data ownership, legal implications).
Economic:
● Generally, biotechnology breakthroughs are usually expensive and many cannot afford them.
● Wealth will continue to become advantageous along with inherited advantages such as nutrition, education, healthcare etc.
● Risk of further inequality, particularly if technology leads to enchantments above disease prevention.

Cultural:
● Positive reactions to change from people in an area where religion is not a governing force enables and encourages the use of
biotechnologies since science does not clash with cultural values.
● Individuals will have different beliefs that govern their ethics. Influenced by their priorities, education and religion.
● Some may believe genetic engineering is intrinsically wrong as it is tampering with God's creations.
● Many believe it's an extrinsically wrong → object to current potential consequences of using this biotechnology.
Biology Module 6 Genetic Change - Malika Kapoor
Concerns:
● Off-target effects → when editing technique results in an effect on genes that were not the intended target resulting in unintended
mutations or chromosomal translocation.
● Further, we don't fully understand the genome → there can be united consequences by changing the interaction between genes or
by modifying genes that are involved in regulating the expression of other genes.

Case Studies
Golden Rice
● Golden rice is a strain of rice which was developed through genetic engineering techniques. The variety has been designed to produce
beta-carotene, a precursor to vitamin A. The fortified rice is intended to be grown in areas whose populations have a general shortage
in dietary vitamin A.
● Golden rice was created by inserting two genes for beta-carotene biosynthesis into the plant's genome:
○ psy (phytoene synthase), derived from daffodil
○ crtl (carotene desaturase) derived from a soil bacterium
● These genes were inserted into the genome under the control of the endosperm promoter so that they would only be expressed in
the edible part of the plant.

Advantages Disadvantages

● Public health benefits (e.g. aid with vitamin A deficiency which ● Potential loss of biodiversity in the surrounding areas due to
is responsible for 1- 2 million deaths annually). unsustainable monoculturing practices.
● Introduction of new alleles into the gene pool, increasing ● Existing issues with agriculture are exacerbated by corporate
variation across rice species control of the product.
● Development of this technology paves the way for future ● Unforeseeable risks of introducing new molecules into diet
research into nutritionally augmented foods. (though this has largely been disproved in recent studies).
● The Golden Rice Project sets an example of how ● Fears that widespread use of golden rice will divert attention
biotechnologies can be implemented for humanitarian use away from continuing structural inequalities that are the cause
rather than pure capital raising. of vitamin A deficiency.

Genetically Modified Foods

Genetically modified foods are organisms (crops or livestock) whose genomes have been altered by genetic engineering techniques. The aim of
genetically modified foods is to introduce new traits (often derived from different organisms) which confer a benefit such as resistance to
insects or herbicides, or increased nutritional value. Examples include:
● Bt cotton: cotton crops with the Bacillus thuringiensis bacterial toxin gene inserted into the gen- ome, which confers resistance to
insecticides due to expression of insecticidal protein.
● Golden rice: insertion of genes so that the endosperm of the plant produces vitamin A precursor, beta-carotene.
● Virus resistant papaya: transgenic fruit tree with DNA of papaya ringspot virus incorporated into its genome to confer resistance.

There are currently 26 species of GM crops available for commercial sale in at least one country. Although GM livestock have been developed,
including cattle, pigs, and goats, however none of these organisms nor their products are currently available for commercial use.

Advantages Disadvantages

Social impacts: Social impacts:

● Addresses matters of global inequality such as poverty and ● May increase socioeconomic disparity if implemented
food security, and aids in fulfilling the UN Sustainable incorrectly, meaning the rich get richer.
Development Goals. ● Lack of consistent regulation internationally may restrict the
● May increase the dialogue between communities and ability for GM foods to be imported effectively, which may
scientists, and improve scientific literacy. impact negatively on farmers whose only choice given their
● Reduction in environmental footprint is beneficial to the global environment and its challenges is to use GM crops.
community, as there is less leaching of chemicals into
ecosystems. Economic impacts:
● GM crops require less tillage, meaning there are fewer ● Potential for monopolisation by large biotechnology
greenhouse gas emissions, and the production of companies.
drought-resistant crops enables water conservation. ● Exploitation of patents on GM crop strains to increase profits.
● May cut small-scale and third world farmers out of the market.
Economic impacts: ● Development of 'terminator seed' technologies may create
● Stimulates the agricultural economy. dependence on companies, and continual re-purchasing of
● May provide farmers in third world countries with tools to products may lead to uncertainty for farmers in terms of price
grow crops easily and quickly. consistency
Biology Module 6 Genetic Change - Malika Kapoor
● Enables farmers with nutrient-poor soil or poor access to
water to continue growing nutrient-rich foods, and increases Cultural impacts:
the amount of food produced per m2. ● Traditional, region-specific farming practices may be
● May help to improve desertified ecosystems eradicated in favour of large-scale agricultural methods (i.e.
loss of important parts of indigenous cultures).
Cultural impacts: ● Lack of sufficient scientific communication with regards to GM
● Food has been an essential part of cultural practices for foods has led to widespread mistrust amongst communities
centuries. (particularly the US) and a rise in anti-science beliefs.
● Agricultural practices, which are often central to global ● Backlash from religious groups on ethical grounds may lead to
cultures, can be preserved in the face of changing climates. divisive debates.
● May provide a tool for preserving important foods and
maintaining significant industries in certain areas.