ARIZONA HIGH SCHOOL PATRICK ASWA 0738962671

BIOLOGY PEARSON ED EXCEL NOTES

UNIT 6: MICROORGANISMS AND GENETIC
MODIFICATION
CHAPTER 22: GENETIC MODIFICATION
LESSON 1: PROTEINS, RECOMBINANT DNA AND
TRANSGENIC ORGANISMS
MAIN OBJECTIVE

5.16 understand that the term transgenic means the transfer of genetic material from one
species to a different species.

SUB-OBJECTIVE

To define and explain the relationship between proteins, genes, recombinant DNA, and
transgenic organisms, focusing on how a new gene gives an organism an added capability.

1.1 THE ROLE OF DNA IN PROTEIN SYNTHESIS

1. A gene is a specific, small section of a long DNA molecule.
2. The main job of a gene is to carry the instructions, or a genetic code, for making a
specific protein.
3. DNA is made up of a sequence of chemical units called bases. The specific order of these
bases forms the code.
4. The bases in the gene are read in groups of three, called a triplet (or codon). Each triplet
codes for one specific amino acid.
5. Proteins are long molecules made by joining many amino acids together in a chain. The
order of the triplets in the gene determines the exact sequence of amino acids in the
protein.
o Since every gene has a unique sequence of bases, it produces a unique sequence
of amino acids, which results in a unique protein.

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6. Proteins are incredibly important and have many different roles in living organisms:

(a) Enzymes: These are special proteins that act as biological catalysts,
controlling and speeding up specific chemical reactions inside cells (like
respiration) or outside cells (like digestion).

(b) Structural Proteins: These provide structure, support, movement, and shape
to cells and tissues. Examples include:

(i) Keratin: The main protein in hair, nails, feathers, and horns.

(ii) Collagen: The most abundant protein in the body, providing strength
and structure to skin, tendons, ligaments, and bones.

(iii) Actin and Myosin: Proteins that interact to cause muscle contraction
and cell movement.

(iv) Proteins that are key parts of the cell membrane and cell
cytoskeleton.

(c) Protein Hormones: These act as chemical messengers. A well-known example

is insulin, which controls blood sugar levels.

(d) Functional/Transport/Defence Proteins: These carry out specific tasks

related to transport, protection, and regulation. Examples include:

(i) Haemoglobin: Found in red blood cells, this protein transports oxygen
from the lungs to the body's tissues.

(ii) Antibodies: Proteins produced by the immune system to identify and

neutralise pathogens (disease-causing agents).

(iii) Fibrinogen: A protein essential for blood clotting to stop bleeding.

1.2 RECOMBINANT DNA

1. Genetic engineering is the process of deliberately changing the genetic material of an
organism.
2. The core idea of genetic engineering is the creation of recombinant DNA.
3. Recombinant DNA is a new DNA molecule that is made by combining (recombining) the
genetic material from two different species.

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4. This is done by taking a specific gene (a section of DNA) from one organism (e.g., a
human) and inserting it into the DNA of a different organism (e.g., a bacterium).
5. This new, combined DNA molecule is called 'recombinant' because the DNA from the
two different sources has been joined together.

1.3 TRANSGENIC ORGANISMS

1. An organism that contains a gene that has been introduced from a different species is
called a transgenic organism.
2. The term transgenic literally means the transfer of genetic material (DNA/a gene) from
one species to a different species.
3. The organism that receives the new, "foreign" gene now has an added capability
because it can read the new gene's code.
4. The organism will start to manufacture the protein that the newly inserted gene codes
for.
5. Examples of Transgenic Organisms:
o (a) Transgenic Bacteria (Example: Insulin Production):

(i) A human gene that codes for the production of insulin is transferred
into a bacterium.

(ii) This bacterium is now transgenic and can read the human gene.

(iii) The transgenic bacteria start making human insulin protein.

(iv) When these bacteria are grown in large numbers in a fermenter, they
act as tiny factories, producing large amounts of safe, pure human insulin
for medical use.

(b) Transgenic Sheep (Example: Alpha 1-antitrypsin):

(i) Some sheep have had the human gene that makes a protein called
alpha 1-antitrypsin (AAT) transferred into them.

(ii) This protein is secreted in the sheep's milk, where it can be collected
and used to treat human diseases like emphysema.

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1.4 HOMEWORK QUESTIONS (10 MARKS TOTAL)

1. Define the following terms:

(a) Gene (1)

(b) Transgenic organism (2)

(c) Recombinant DNA (2)

2. Explain in full sentences what is meant by the objective "understand that the term
transgenic means the transfer of genetic material from one species to a different
species." (3)
3. Give two different examples of functional proteins and briefly state the role of each in
the body. (2)

LESSON 2: MAKING USE OF GENETICALLY MODIFIED

BACTERIA
MAIN OBJECTIVES

5.12 understand how restriction enzymes are used to cut DNA at specific sites and
ligase enzymes are used to join pieces of DNA together

5.13 understand how plasmids and viruses can act as vectors, which take up pieces of
DNA, and then insert this recombinant DNA into other cells

5.14 understand how large amounts of human insulin can be manufactured from
genetically modified bacteria that are grown in a fermenter

SUB-OBJECTIVE

 To describe the use of genetically modified bacteria in the manufacture of various

products beyond human insulin.

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2.1 PRODUCING GENETICALLY MODIFIED (TRANSGENIC)

BACTERIA
The process of creating genetically modified (GM) bacteria, also known as transgenic bacteria,
involves transferring a specific gene from one organism (e.g., a human) into a bacterial cell. This
process relies on special enzymes and structures found naturally in bacteria.

A. Understanding the Molecular Tools

Scientists use special enzymes that act as molecular "scissors" and molecular "glue" to
precisely manipulate DNA.

1. Restriction Enzymes (Restriction Endonucleases)

a) These enzymes are the molecular "scissors."
b) They are enzymes that cut DNA molecules at specific base sequences
(recognition sites). Different restriction enzymes recognize and cut different
sequences.
c) They are used to cut out the desired gene from the DNA of the donor organism
(e.g., the human insulin gene) and to open up the bacterial plasmid.
d) The base sequence they recognize is present on both strands of the DNA, but
runs in opposite directions (a palindromic sequence).
e) Some restriction enzymes make a straight cut, producing DNA fragments with
blunt ends.
f) Other restriction enzymes make a staggered cut, producing fragments with
overlapping ends that have complementary bases. These overlapping ends are
called "sticky ends."
 Sticky ends are preferred because they make it much easier to join the
cut gene and the cut plasmid together. The exposed complementary
bases will naturally line up and form temporary hydrogen bonds.

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Diagram 2.1 How restriction enzymes cut DNA. (a) Forming blunt ends. (b) Forming sticky
ends.

2. Ligase Enzymes (DNA Ligases)

a) These enzymes are the molecular "glue."
b) They are enzymes that join the cut ends of DNA molecules together by forming
strong chemical bonds between the sugar and phosphate parts of the DNA
backbone.

B. Vectors: The Delivery Vehicles

A vector is a biological structure that is used to transfer genetic material (DNA) from one
organism (the donor) into another (the host).

1. Plasmids
a) Plasmids are the most common vectors used in bacterial genetic modification.
b) They are small, circular pieces of DNA that are separate from the main bacterial
'chromosome' DNA.
c) Bacteria naturally swap plasmids, which is why they are effective for gene
transfer.
d) Process using a plasmid:

(a) The plasmid is isolated from a bacterium.

(b) The same restriction enzyme used to cut the desired gene is used to
cut open the circular plasmid.

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(c) The isolated gene (e.g., the human insulin gene) and the opened-up
plasmid are mixed together with the ligase enzyme.

(d) The ligase enzyme joins the gene into the plasmid DNA to create a
new circular DNA molecule called a recombinant plasmid (or
recombinant DNA).

Diagram 2.2 showing Stages in producing a transgenic bacterium.

2. Viruses (Bacteriophages)
a) A bacteriophage (or phage) is a type of virus that specifically infects bacteria.
b) The virus works by attaching to the bacterial cell wall and injecting its own DNA
into the bacterium.
c) If a foreign gene can be inserted into the virus's DNA, the virus will inject this
new gene along with its own into the bacterial cell.

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d) This DNA containing the foreign gene then becomes incorporated into the
bacterial cell's DNA, making it a vector.
e) While viruses were used in the early days of genetic modification, plasmids are
now the most common and widely used vector for gene transfer into bacteria.

Diagram 2.3 showing a bacteriophage attacking a bacterial cell

C. Producing the Transgenic Bacterium

Once the recombinant plasmid (plasmid + foreign gene) has been created, it must be put back
into a bacterial cell.

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1. The bacteria are incubated with the recombinant plasmids.

2. Some bacteria will naturally take up the plasmids from the surrounding solution. This
process of uptake is called transformation.
3. The bacteria that have successfully taken up the recombinant plasmid are now
genetically modified (transgenic) and contain the gene from the donor cell (e.g., the
human insulin gene).
4. These transgenic bacteria can now express the new gene and manufacture the desired
protein (e.g., human insulin) on a large scale.

2.2 MAKING USE OF GENETICALLY MODIFIED BACTERIA

Once bacteria have been genetically modified to contain a useful gene, they can be grown in
large containers called fermenters to produce vast amounts of the desired product. This
process is called culturing.

A. Production of Human Insulin

1. The Need for Human Insulin

a) People with diabetes cannot produce enough of their own insulin, a hormone
needed to control blood glucose levels. They require regular injections of insulin.
b) Before genetic engineering, insulin was extracted from the pancreases of
animals like cattle or pigs.
c) (a) This animal insulin is not exactly the same as human insulin, which can lead
to a less precise control of blood glucose levels.
d) (b) Using animal products carried a higher risk of allergic reactions in some
patients.
2. Manufacturing Human Insulin
a) The human gene for insulin production is isolated and inserted into a bacterial
plasmid to create a recombinant plasmid.
b) This recombinant plasmid is inserted into a bacterium (usually E. coli) via
transformation, creating a transgenic bacterium.
c) (a) These transgenic bacteria are grown in large quantities in a fermenter.
d) (b) The bacteria's cellular machinery reads the human insulin gene and begins to
mass-produce human insulin.
e) (c) The insulin is then purified and packaged for use by diabetic patients.
f) (d) This method produces an identical copy of human insulin, which is safer,
more effective, and can be produced in unlimited supply.

B. Other Useful Products

Genetically modified bacteria are used to manufacture a wide variety of other useful products:

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1. Enzymes for Washing Powders

a) Many common clothing stains are biological (e.g., blood is protein, grease is
lipid).
b) Bacteria are engineered to produce different types of enzymes:
i. Proteases digest proteins.
ii. Lipases digest lipids (fats).
iii. Amylases digest starch.
c) These enzymes break down large, insoluble stains into smaller, soluble
molecules that dissolve easily in water.
d) GM bacteria can produce enzymes that work effectively even at higher washing
temperatures, increasing their efficiency.
2. Enzymes in the Food Industry
a) Glucose isomerase is a bacterial enzyme used to convert the sugar glucose into a
similar, much sweeter sugar called fructose.
b) (a) Because fructose is sweeter, less is needed to sweeten foods.
c) (b) This saves money for food manufacturers and makes the resulting food
healthier (contains less sugar overall).
3. Human Growth Hormone (HGH)
a) Some children have a slow growth rate because their pituitary gland does not
produce enough HGH.
b) Injections of HGH restore normal growth patterns.
c) Before GM bacteria, the only source was from human corpses, a procedure that
carried health risks (such as the transmission of diseases like CJD).
d) GM bacteria now provide a safe and reliable source of pure human growth
hormone.
4. Vaccines
a) Bacteria can be genetically modified to produce antigens (molecules that trigger
an immune response) from disease-causing organisms, such as the Hepatitis B
virus.
b) When these antigens are used in a vaccine, they prompt the body to produce
protective antibodies, but because only the antigen (and not the whole virus) is
used, there is no risk of contracting the disease.

5. Bovine Somatotrophin (BST)

a) This is a growth hormone in cattle.
b) Giving BST injections to dairy cattle can increase the milk yield significantly (by
up to 10 kg per day). It also increases muscle production in bulls.
c) (a) While the cows need more food, the extra income from the higher milk yield
generally makes this practice economically worthwhile.

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3. Homework Questions

Answer the following questions using clear, complete sentences.

1. Explain the function of restriction enzymes and ligase enzymes in the process of genetic
modification. (2)
2. Define the term vector and give an example of a vector used to transfer genes into
bacteria. (2)
3. Describe the key steps involved in creating a recombinant plasmid. (4)
4. Explain why using human insulin manufactured by genetically modified bacteria is
preferred over using insulin extracted from animal sources. (3)
5. State three useful products, other than human insulin, that are manufactured using
genetically modified bacteria and briefly describe the purpose of one of them. (4)

(Total Marks: 15)

LESSON 3: PRODUCING GENETICALLY MODIFIED PLANTS

MAIN OBJECTIVES:

5.15 understand how genetically modified plants can be used to improve food
production

5.16 understand that the term transgenic means the transfer of genetic material from
one species to a different species.

SUB-OBJECTIVE:

 Understand the methods used to transfer new genes into plant cells and grow them into
whole genetically modified plants.
 Explore the applications and benefits of genetically modified plants in agriculture and
medicine.

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3.1 WHAT IS A TRANSGENIC ORGANISM?

The term transgenic means that genetic material (DNA) has been transferred from one species
to a different species.

1. In the context of genetic modification (GM), a transgenic organism contains a gene or

genes from an organism of a different species.
2. For example, "golden rice" is transgenic because it contains genes from a daffodil plant
and a bacterium, which are different species from rice.
3. The process of creating a transgenic organism involves taking a desired gene from one
organism and inserting it into the DNA of another.

3.2 KEY STAGES IN PRODUCING GENETICALLY MODIFIED

PLANTS
Unlike bacteria, which are single-celled, plants have billions of cells. To successfully genetically
modify a plant, the new gene must be present in every cell, which will then be passed on to the
next generation of plants.

The general procedure for genetically modifying plants involves two main stages:

1. Introducing the new gene(s) into individual plant cells.

2. Producing whole plants from those few genetically modified cells.

3.3 METHODS FOR INSERTING GENES INTO PLANT CELLS

Biologists have developed two main techniques to successfully introduce new genes into plant
cells:

A. Using the Agrobacterium Bacterium as a Vector

1. Initially, it was difficult to insert genes into plant cells.

2. However, scientists discovered a natural method used by a soil bacterium called
Agrobacterium tumefaciens.
3. This bacterium naturally inserts some of its own DNA (contained in a plasmid) into the
DNA of plant cells, causing a disease called crown gall. Biologists harnessed this ability to
insert desired genes.

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a) Preparation of the Vector:

i. The desired gene (e.g., a gene for herbicide resistance) is cut out of its source
organism's DNA using a restriction enzyme.
ii. The Agrobacterium plasmid (which acts as the vector) is also cut open with
the same restriction enzyme.
iii. The desired gene is inserted into the cut plasmid and joined back together
using a ligase enzyme.
iv. This creates a recombinant plasmid.
b) Transformation:
i. The Agrobacterium is allowed to take up this recombinant plasmid.
ii. The bacterium is then used to infect small pieces of plant tissue (often from a
leaf).
c) Insertion of the Gene:
i. The Agrobacterium naturally transfers the recombinant plasmid's DNA,
including the new gene, into the plant cells' chromosomes.
d) Limitation:
i. This technique is very effective, but Agrobacterium will not infect certain
types of plants, such as cereals (like rice, wheat, and maize).

Diagram 3.1 showing genetically modifying plants using Agrobacterium.

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B. Using the 'Gene Gun'

To genetically modify plants that Agrobacterium cannot infect, such as cereals, the 'gene gun'
technique was invented.

1. Principle: The gene gun, quite literally, fires DNA directly into the plant tissue.
2. Procedure:
a) Tiny pellets, usually made of gold or tungsten, are coated with the DNA that
contains the desired gene.
b) These pellets are loaded into the gene gun.
c) The gun is fired, sending the DNA-coated pellets directly into young, delicate
plant tissue (like cells from an embryo).
3. Uptake: Research has shown that if the correct young tissue is used, there is a good
uptake of the DNA; the cells are literally "shot" with the new gene.
4. Applications: This method has made it possible to genetically modify many crops,
including cereals (rice, maize), tobacco, cotton, and others.

3.4 GROWING THE WHOLE PLANT (MICROPROPAGATION)

Once the new gene has been successfully inserted into a few individual plant cells using either
method, a whole, genetically modified plant must be grown. This is achieved using a technique
similar to micropropagation.

1. Tissue Culture: The genetically modified plant tissue (or individual cells) is placed in a
sterile Petri dish on a special nutrient-rich agar gel.
2. Hormones: The agar gel contains plant growth hormones (like auxins and cytokinins)
that stimulate the plant cells to divide rapidly.
3. Development:
a) The cells first form an undifferentiated lump of cells called a callus.
b) By adjusting the balance of hormones in the medium, the callus is stimulated to
develop tiny plantlets (miniature shoots and roots).
4. Transplanting: These plantlets are then transferred to soil where they grow into full-
sized, genetically modified plants. Since they grew from the modified cells, every cell in
the new plant contains the new gene.

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3.5 APPLICATIONS OF GENETICALLY MODIFIED (GM) PLANTS

Genetically modified plants are already widely used, and research is constantly exploring new
applications to benefit agriculture, human health, and industry.

A. Improving Food Production (Agriculture)

Genetically modifying crops can lead to plants that are more productive, resilient, and
nutritious.

1. Herbicide Resistance:
a) Genes are transferred to crop plants to make them resistant to specific
herbicides (weed killers).
b) This allows farmers to spray their fields with herbicide at the best time to kill
weeds without harming the crop.
c) Concern: Some fear this will encourage farmers to overuse herbicides.
2. Pest and Pathogen Resistance:
a) Genes can be added to increase a plant's natural resistance to a range of insect
pests and disease-causing pathogens.
b) Example: Inserting a gene from the bacterium Bacillus thuringiensis (Bt) into
crops like maize makes the plant toxic to certain insects, reducing the need for
chemical pesticides.
3. Enhanced Shelf Life:
a) Some fruits and vegetables are engineered to slow down the ripening or rotting
process.
b) This gives them an extended 'shelf life', reducing waste and allowing for longer
transport.
4. Environmental Tolerance:
a) Plants can be modified to be more tolerant of harsh conditions: Increased
resistance to frost/cold (e.g., transferring 'anti-freeze' genes from Arctic fish).
b) Increased heat and drought tolerance: Increased salt tolerance, allowing crops
to grow on previously infertile or irrigated land with high salt content.
5. Improved Nutrition (Example: Golden Rice):
a) 'Golden rice' has three extra genes—two from daffodils and one from a
bacterium—added to its DNA.
b) These genes allow the rice to produce beta-carotene (a chemical that gives
carrots their color).
c) Beta-carotene is converted into vitamin A when eaten.
d) This modification is designed to prevent vitamin A deficiency and the resulting
blindness in millions of children in less economically developed countries.

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B. Benefits for Human Health (Pharming)

Genetically modified plants are being researched for use in producing medicines and vaccines, a
process sometimes called 'pharming'.

1. Edible Vaccines:
a) Scientists are researching transferring genes for certain antigens (the substances
that trigger an immune response) into common foods like bananas or potatoes.
b) When a person eats the GM food, the plant-produced antigen would stimulate
the immune system to produce antibodies, providing protection against the
disease without the need for an injection.
2. Producing Antibodies:
a) Biologists have modified tobacco plants and soybeans to produce antibodies
against infectious diseases.
b) These plant-produced antibodies could be harvested and given to people whose
own immune systems are failing to produce enough antibodies.
3. Vaccine Components:
a) Modified tobacco plants can produce the hepatitis B antigens.
b) Using only plant-produced antigens for a vaccine is potentially safer than using
parts of the actual virus, as there is no risk of the virus somehow becoming
infectious again.

C. Industrial and Other Applications

1. Bioplastics and Anti-coagulants: Some genetically modified oilseed rape plants are
being used for the large-scale production of biodegradable plastics and anti-coagulants
(substances that prevent blood clotting).
2. Nitrogen Fixation in Cereals:
a) Scientists are trying to transfer the genes for nitrogen fixation (currently only
found in legumes like peas and beans) into major crops like cereals and
potatoes.
b) These genes allow nitrogen-fixing bacteria to form nodules on the roots, which
take nitrogen from the air and convert it into a usable form (like ammonia).
c) If successful, this would provide the crops with a natural supply of nitrogen,
dramatically reducing the need for expensive chemical fertilisers and enabling
vast areas of infertile soil to yield good crops.

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3.6 HOMEWORK QUESTIONS

1. Explain the meaning of the term transgenic in the context of genetic modification. [2]
2. Outline the two main stages required to produce a whole, genetically modified plant
from a single modified cell. [2]
3. Describe the role of Agrobacterium in genetically modifying plants, explaining why it is
referred to as a vector. [3]
4. Explain the principle behind the 'gene gun' technique and state why this method is
necessary in plant modification. [3]
5. State and explain three different ways in which genetically modified plants can be used
to improve food production, giving an example for one of them. [6]
6. Suggest one significant ethical or environmental concern that might be raised by the use
of herbicide-resistant GM crops. [2]

LESSON 4: PRODUCING GENETICALLY MODIFIED

ANIMALS
MAIN Objective(s):
5.16 understand that the term transgenic means the transfer of genetic material from one
species to a different species.

5.20B understand how cloned transgenic animals can be used to produce human proteins.

Sub-Objective: To explain the methods, applications, and ethical considerations associated with
producing and cloning transgenic animals.

4.1 PRODUCING TRANSGENIC ANIMALS

1. Definition of Transgenic Organism:
a) The term transgenic is used to describe an organism that contains genetic
material (DNA) that has been transferred from a different species.
b) For example, a sheep that has been given a human gene is a transgenic
organism. The gene from the human is now part of the sheep's genetic makeup.

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2. Challenges in Creating Transgenic Animals:

a) Animals, like plants, are multicellular organisms. Simply adding a new gene to
one cell isn't enough; the gene needs to be present in all the cells of the resulting
organism.
b) Unlike plants, where modified single cells can be grown into a whole plant using
a technique called micropropagation, a similar, simple method does not exist for
whole animals.
3. Technique Used to Create Transgenic Animals:
a) The most successful method involves directly inserting the desired gene into a
newly fertilised egg cell (or zygote) before it begins to divide.
b) The gene, which is part of a DNA segment, is micro-injected into the nucleus of
the fertilised egg cell using a very fine needle.
c) The modified egg cell is then allowed to develop into an embryo, which is
typically implanted into a surrogate mother animal (e.g., a female of the same
species) to develop until birth.
d) Since the gene was added at the very beginning of development, it should be
incorporated into the genetic material of most or all of the cells of the resulting
adult animal, including its reproductive cells.

Diagram 4.1 showing The procedures used in producing genetically modified animals.

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4. Beneficial Applications of Genetically Modified Animals:

a) Manufacture of Human Proteins: Transgenic animals can be engineered to
produce useful human proteins that can be used as medicines. Examples include:
i. Antibodies
ii. Blood clotting factors
iii. Alpha-1-antitrypsin (AAT) (discussed in detail below)
b) Increased Production: Animals can be modified to have traits that increase their
productivity for farming:
i. Higher milk yield in cows.
ii. Greater muscle mass in animals used for meat.
c) Increased Resistance to Disease: Genes can be added to make animals less
susceptible to common diseases, improving their health and survival rate.
d) Production of Organs for Transplantation (Xenotransplantation):
i. Xenotransplantation is the process of transplanting organs or tissues
from one species (e.g., a pig) into a different species (e.g., a human).
ii. The main problem with transplanting animal organs into humans is
immune rejection, where the human immune system attacks the foreign
organ.
iii. Scientists have created transgenic pigs with genes that code for the main
human 'marker antigens'. The cells of the pig's organs therefore display
these human antigens, making the organ less likely to be rejected by the
human recipient.
5. Ethical Concerns Regarding Transgenic Animals:
a) Many people have ethical concerns about using animals, especially for producing
human organs (xenotransplantation).
b) Concerns also exist about the potential suffering of the animals during the
modification process and the potential unforeseen long-term effects of genetic
modification on the animals' health and well-being.

4.2 CLONING TRANSGENIC ANIMALS TO PRODUCE HUMAN

PROTEINS
1. The Need for Cloning:
a) Once a successful transgenic animal (carrying the desired human gene) is
created, it can be cloned to produce many genetically identical copies.
b) This is important because cloning allows scientists to rapidly increase the
numbers of animals that can produce the valuable human protein, making it
available on a large scale.
2. Case Study: Alpha-1-Antitrypsin (AAT) Production:
a) The Role of AAT: Alpha-1-antitrypsin (AAT) is a human protein involved in the
immune response.
b) When the body fights an infection, immune cells called phagocytes produce an
enzyme called trypsin to destroy harmful cells and pathogens.

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c) AAT acts as a counter measure to stop trypsin from attacking and damaging the
body's own healthy tissues.
d) AAT Deficiency: Some people have a genetic mutation that causes them to
produce insufficient amounts of AAT.
i. Without enough AAT, the trypsin produced by the immune system is free
to damage normal tissues, primarily in the liver and lungs.
ii. Damage to the lungs can lead to a type of emphysema, a serious
respiratory condition.
e) Using Transgenic Sheep:
i. Scientists have genetically modified sheep to carry the human gene for
AAT.
ii. The gene is specifically designed to be expressed (activated) only in the
cells that produce milk in the sheep's udder.
iii. This means the transgenic sheep produce the human AAT protein in their
milk.
iv. The AAT can then be purified from the milk and used to treat people who
suffer from AAT deficiency.
f) Cloning for Mass Production: By cloning the transgenic sheep, researchers can
create a herd of identical animals, all producing AAT in their milk, thereby
significantly increasing the available supply of the medicine.

4.3 HOMEWORK QUESTIONS

1. What does the term transgenic mean? Explain how a transgenic animal is created in the
laboratory. (4)
2. Explain why scientists use the technique of micro-injection directly into a newly
fertilised egg cell when creating genetically modified animals. (2)
3. Name two human proteins that can be produced using genetically modified animals. (2)
4. Describe what xenotransplantation is and explain how genetically modifying pigs can
help to reduce the problem of organ rejection in human recipients. (4)
5. Alpha-1-antitrypsin (AAT) is a human protein that can be produced in the milk of
transgenic sheep.
o (a) Explain the normal function of AAT in the human body. (3)
o (b) State the benefit of cloning the transgenic sheep once a successful one has
been produced. (1) (Total: 16 marks)

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