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GENETICS
- Genetics is the study of heredity and variation in living organisms.
- Genes control every characteristic in your body.
- A gene is a segment of a DNA molecule that controls a particular hereditary characteristic by coding for a
particular protein.
- Each chromosome is a linear collection of genes.
- The complete set of genes of a particular organism is known as its genome.
- The human genome consists of about 25000 different genes and contains all the essential DNA coding
required to synthesize all the proteins needed by an organism.
- Each somatic cell possesses a complete set of genes (with exception of cells without nuclei like red blood
cells)
- Although all genes are found in all somatic cells, only certain genes are activated/switched on in specific
cells. Thus, only the proteins that provide the structure and function of a specific cell are synthesized.

Mendel’s hereditary experiments

- Gregor Mendel (1822-1884) was a monk who is regarded as the father of genetics because he
formulated the basic laws of genetics.
- He chose pea plants to experiment with because they are naturally self-pollinating and show clear,
observable, contrasting traits.
- Mendel cut off the anthers (containing pollen) and then performed cross-pollination himself, using
pollen of his own choice.
- Mendel created “true breeding” populations of pea plants by weeding out any individuals that did not
display the character trait he wanted. For instance, he would create a population of true breeding “tall”
pea plants by pulling out any short plants that grew before they reproduced. Eventually only tall pea
plants were produced by that population. He had created a population that was homozygous for the tall
allele.
- Mendel found that, when he crossed true breeding tall plants with true breeding short plants: All the
offspring were tall.

Mendel’s conclusions:
- A hereditary characteristic (example plant length in peas) is determined by two genes.
- Thus, each individual has two genes for each character trait; one gene of the gene pair is from the
mother and one from the father. The gene pair is carried on two chromosomes of a homologous
chromosome pair.
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- A particular gene occurs in two(sometimes more) forms that affect the same characteristic in different
ways
- These genes may be identical e.g. both code for brown eyes, or they could be different e.g. one could
code for brown eyes and the other for green eyes.
- Alternative forms of the same gene at the same locus are known as alleles.
- The alleles for a particular gene always occur at a specific position (= locus) on a specific homologous
chromosome pair.
- When two different alleles are present for a particular trait, the individual is said to be heterozygous for
that trait.
- When the two genes for a particular trait are identical, the individual is said to be homozygous for that
trait.
- When two different alleles are present for a particular trait, it is possible for the presence of one of these
alleles to mask the presence of the other allele. This allele is said to be dominant while the other is
recessive.
- The expression of the genes as observable physical characteristics is known as its phenotype.
- The composition of alleles/genetic code for a particular trait is known as its genotype.

- When depicting (drawing) an organism’s genotype a capital letter is used to represent a dominant allele
while a small letter is used to represent a recessive allele.

- He concluded that the allele for tallness was dominant over the allele for short plants. (NOTE: Mendel
used the term “factor” not gene or allele, these terms had not been coined at that stage)
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- This led him to formulate Mendel’s Law of Dominance which states

“If two alleles are different only the dominant one is expressed”

- The genotype of a particular trait of an organism is expressed as two letters, one representing each allele
(one from the mother and one from the father).
- The first letter of the dominant trait is used.
- For instance in peas, where tall is dominant over short: The dominant allele is represented by a capital
letter “T” , the recessive, short, allele is represented by a small “t” (NOT an “s” )

Genetic cross showing the results of Mendel’s experiment

(Homozygous tall pea plant X Homozygous short pea plant)
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- Having established the principle of dominance Mendel went on to cross individuals which were true
breeding for two character traits e.g. seed colour (yellow or green ) AND seed shape (round or wrinkled).
- His experiment showed that the different traits were inherited independently of each other.
- This led to two other laws – Mendel’s law of Segregation and Mendel’s law of Independent Assortment.

Our knowledge of Meiosis helps us understand Mendel’s Laws

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Monohybrid Crosses
- Initially Mendel investigated a single contrasting characteristic at a time, this is called a monohybrid
cross.
- When he crossed true breeding (homozygous) tall pea plants with true breeding (homozygous) short pea
plants, all the offspring were tall.
- However, when he crossed the F1 generation together the ratio of tall to short in the F2 generation was
3Tall:1Short.
- Below there is a space for you to draw a genetic diagram showing Mendel’s monohybrid cross to the
second generation. It is important to follow the correct format, nothing should be left out.

Genetic diagram showing Mendel’s cross

(F1 generation self-pollinated resulting in F2 generation)
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Punnett diagrams
Punnett diagrams are used to work out the ratios of genotypes and phenotypes in the offspring.

Fill the male gametes in here

The possible F1 genotypes end up

Fill the female
here.
gametes in here

Complete dominance.
- Mendel’s cross of tall and short pea plants is an example of complete dominance.
- During complete dominance, the recessive trait (short in this case) is only visible in the phenotype when
it is present on both members of the homologous pair i.e. when the individual is homozygous for that
trait.
- As a result of complete dominance only the effect of the dominant allele is expressed in the phenotype.
- Therefore, a Tt genotype appears tall(phenotype).

Test Crosses
- An organism expressing the dominant trait in its phenotype could be homozygous or heterozygous for that
characteristic.
- Therefore a tall pea plant could be either TT(homozygous) or Tt(heterozygous)
- The genotype of such a parent cannot be determined by simply looking at the phenotype.
- If the genotypes of the parents are unknown, one way to determine the genotype is by means of a test
cross.
- In a test cross, the unknown parent with the dominant trait is crossed with an organism that expresses the
recessive trait (has a homozygous recessive genotype).
- If all the offspring express the dominant trait, the unknown parent is homozygous (TT)
- If there are any recessive offspring the ‘unknown’ parent must be heterozygous (Tt)

Draw a cross with both possibilities below:

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Incomplete dominance (for enrichment)

- Sometimes an individual can exhibit traits that are intermediate between those of its parents.
- This phenomenon is known as incomplete dominance.
- A good example is the snapdragon flower. If a red individual is crossed with a white individual, all the
offspring are pink.
- In this case homozygous individuals are either red (RR) or white (WW) but heterozygous individuals (RW)
are all pink.

Genetic diagram showing incomplete dominance in snapdragons.

Now use your knowledge of genetics to construct a genetic diagram to determine the ratio of genotypes and
phenotypes in the offspring when two heterozygous snapdragons are crossed.
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Co-dominance
- In this situation both alleles of a gene are equally dominant and both are expressed in the phenotype.
- The heterozygote has visible characteristics from both parents.
- A good example is fur colour in cattle.
- When a homozygous red cow is crossed with a homozygous white bull the offspring all have both red
and white fur in patches (not pink).

Blood Groups
- The inheritance of blood group has elements of both complete dominance and co-dominance.
- Our blood group may be A, B, AB or O. Thus four phenotypes are possible.
- This is controlled by a single gene (ABO gene) with three possible alleles, they are i, IA and IB .
- The phenomenon whereby one gene has more than 2 alleles to control a trait is known as multiple
alleles. Note that, although there are multiple alleles possible in the gene pool, only two can be present
at any one time in a somatic cell, one from the mother and one from the father.
- Alleles IA and IB are co-dominant.
- Alleles IA and IB are both dominant over allele i.
- The following table shows how the different blood groups result from different genotypes.

Blood group/ Genotype/s

phenotype
A IAIA/IAi
B IBIB/IBi
AB IAIB
O ii
Exercise:-

Draw a genetic diagram to show the possible ratio of offspring that a heterozygous Blood group B and a blood group
AB parent could produce.
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Sex Chromosomes and sex determination

- The human karyotype contains 22 pairs of autosomes and one pair of sex chromosomes -gonosomes
- In a male the sex chromosomes are different i.e. XY.
- In the female the sex chromosomes are both the same i.e. XX.
- When gametes are created, the female gametes all contain an X chromosome, but, in males, half of the
gametes will receive an X chromosome while the other half receive a Y chromosome.
- When a sperm cell containing an X chromosome fuses with the egg a female baby results.(XX)
- When a sperm cell containing a Y chromosome fuses with the egg, then a male baby results (XY)

Exercise

Draw a punnet square to show the probability of becoming pregnant with a boy or girl every time conception occurs.
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Sex linked genes

- The gonosomes not only control gender, but also carry other genes. These genes are known as sex-
linked genes.
- The X chromosome is larger and carries many more genes than the Y chromosome.
- The Y chromosome is too small to carry many genes. Its main role is to control gender.
- This means that, for some traits, females will carry two copies of a gene while males will only carry one.
- This means that in females a recessive gene, when present, can be masked by the presence of a
dominant gene.
- In males, however, a recessive gene has no dominant gene to mask it. Therefore, even though recessive,
it will show/be expressed in the phenotype of the male.
- Two such sex-linked disorders are :
o Red/green colour blindness
o Haemophilia
- Both of these disorders are caused by a recessive allele, which is carried on the X chromosome.
- Therefore, they are also called X-linked disorders.
- The alleles, which cause these disorders, are relatively rare.
- If a female inherits one then she will probably have a normal gene on the other X chromosome – her
phenotype will be normal.
- If a male inherits one, he does not have another allele on the Y chromosome – his phenotype will be
colour blind/ haemophiliac.

The diagram above shows how sex chromosomes are transmitted from parents to offspring via the
gametes. A Mother transmits either one of her two X chromosomes to a son or daughter. Fathers,
however, pass their X chromosome to their daughter. A son always receives the Y chromosome from his
father, and the X chromosome from his mother.
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Red-green colour blindness.

- This is a visual defect resulting in the inability to distinguish between certain colours.
- It is caused by a recessive gene, which is carried on the X chromosome.
- Men are colour blind if their single X chromosome carries the recessive gene.
- A woman is colour blind only if both her X chromosomes carry the recessive gene, hence it is very rare in
women.
- If a woman is heterozygous for this trait, she will not be colour blind but she is called a carrier of the
recessive allele, which she may ‘carry’ and pass on to her children.
- When drawing a genetic diagram for a sex-linked disorder one shows both the chromosome (X or Y) as
well as the gene on the chromosome (“N” for normal and “n” for colour blind).
- The genes are shown as a superscript on the chromosome i.e. XN or Xn.

Exercise:

Draw a punnet square between a normal female and a colour blind male.

Exercise:

Draw a punnet square between a normal male and a carrier female.

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Haemophilia (bleeding disorder)

- This is a serious condition in which the blood takes a long time to clot because of the absence of a
clotting factor.
- The gene for the factor is recessive and is carried on the X chromosome.
- An X chromosome with the correct gene for the clotting factor would be written as XH .
- An X chromosome with the incorrect (haemophiliac) gene would be written as Xh.
- Just like colour blindness, haemophilia is more common in males than females.
- A woman can only be haemophiliac if she is homozygous recessive for the haemophilia gene.

Exercise:

Draw a genetic cross using a Punnett diagram to determine the percentage of male children that will be
haemophiliacs if a haemophiliac male marries an unaffected female.

Exercise:

Draw a genetic cross using a Punnett diagram to determine the percentage of male children that will be
haemophiliacs if an unaffected male marries a carrier female.
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Polygenic characteristics
- These are characteristics that are controlled by more than one gene pair at different loci.
- These genes could also have multiple alleles.
- Many different gene combinations can occur, resulting in a wide variety of phenotypes.
- A good example is skin colour in people which can be dark or light or anywhere in between.

Gene Mutations.
- We have already seen that gene mutations can be classified according to the specific nucleotide change
that occurs – these categories are substitution, deletion and insertion.
- We can also categorize mutations according to the effect they have on an organism. This gives rise to the
categories :-
o Beneficial mutations – These favor the survival of the organism and will therefore be selected
for by natural selection. They may eventually become a fixed mutation i.e. present in all
members of the species. Beneficial mutations are thus the main cause of genetic variation that
could lead to natural selection.
o Neutral mutations – For instance a mutation in the non-coding DNA would have no effect on the
phenotype of the individual, OR the mutation may simply switch between two codons that both
code for the same amino acid.
o Harmful gene mutations – These are detrimental to the individual who has them – if they cause
the early death of the organism then the mutation will quickly disappear from the genome. In
most wild animals this would be the case. However, in humans, our society structure allows
disadvantaged individuals to survive and pass their harmful gene on. An example of this is
albinism. Sickle-cell anaemia is also a harmful mutation which survives largely because it
bestows advantages on individuals when in the heterozygous state.

Examples of harmful gene mutations

Albinism
- Albinism is an autosomal recessive genetic disorder caused by a recessive allele that lacks the
instructions for the production of the brown pigment melanin.
- Only homozygous recessive individuals show the trait, heterozygous individuals are normal.
- It is NOT sex linked and occurs equally in both sexes.
- Characteristics include pale skin, blonde hair and blue eyes.
- They are at high risk of skin cancer and struggle in bright light.
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Sickle-cell anaemia
- Sickle-cell anaemia is a genetic disorder caused by an autosomal gene mutation.
- It is most common in areas where malaria occurs.
- In the gene that codes for haemoglobin, the nitrogenous base adenine is replaced/substituted by
Thymine during DNA replication.
- In individuals who are homozygous for this gene HbSHbS it causes the formation of abnormal
haemoglobin –S.
- This in turn results in misshapen red blood cells – they take on a sickle shape.
- These cells cannot carry oxygen properly, they also cause blockages in the capillaries.
- Sufferers have a very short life expectancy.
- The gene for normal haemoglobin-A (HbA ) and haemoglobin S (HbS) are equally dominant. (This is
therefore an example of co-dominance)
- A heterozygous individual HbAHbS will have some haemoglobin S but sufficient normal haemoglobin to
carry oxygen.
- Most importantly, these heterozygous individuals gain a certain amount of immunity to malaria, since
the spleen will remove many infected sickle shaped red blood cells before the parasites can multiply.
- This gives them an advantage over individuals who are homozygous for haemoglobin-A HbAHbA and
ensures that the gene for haemoglobin-S remains in the genome.
- The heterozygous condition is known as sickle-cell trait.
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HUMAN GENOME PROJECT

- This was an international effort to map the entire human genome. (i.e all the base pairs in human DNA.)
- It was started in 1990 and was declared completed in 2003. In 2022 additional information was added.
- Humans have more than 3 billion base pairs (20 000 to 30 000 genes) in their genome.
- It will enable more accurate diagnosis, treatment and management of genetic diseases.
- It will reduce the cost of medical care.
- It will be used to predict the risk of diseases in individuals and their possible offspring.
- It will provide a basis for research in areas, particularly medicine, biotechnology, agriculture and the
environment.

Single Nucleotide Polymorphisms (SNP’s)

- These are a common type of genetic variation in humans.
- SNPs refer to a location on the DNA where there is a difference
of one nucleotide on the DNA.
- They have no effect on the individual’s phenotype.
- They are however, important genetic markers when tracing
someone’s ancestry or genetic diseases.

Genetic Pedigrees (Family Trees)

- These are diagrams which show the inheritance of a particular characteristic in a family over several
generations.
- The phenotype as well as the genotype of the individuals are shown.
- An individual who has a normal phenotype for the characteristic but carries the gene for the
characteristic is known as a carrier.
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To start reading a pedigree:

1. Determine whether the trait is dominant or recessive. If the trait is dominant, one of the parents must have
the trait. Dominant traits will not skip a generation. If the trait is recessive, neither parent is required to have
the trait since they can be heterozygous.

2. Determine if the chart shows an autosomal or sex-linked (usually X-linked) trait. For example, in X-linked
recessive traits, males are much more commonly affected than females. In autosomal traits, both males and
females are equally likely to be affected (usually in equal proportions).

Example: Autosomal dominant trait

The diagram shows the inheritance of freckles in a family. The allele for freckles (F) is dominant to the allele for no
freckles (f).
At the top of the pedigree is a grandmother (individual I-2) who has freckles. Two of her three children have the trait
(individuals II-3 and II-5) and three of her grandchildren have the trait (individuals III-3, III-4, and III-5).
What is the genotype of individual I-2?

Since freckles are dominant to no freckles, an affected individual such as I-2 must at least have one F allele.

The trait shows up in all generations and affects both males and females equally. This suggests that it is an
autosomal dominant trait.

Unaffected individuals must have two recessive alleles (ff) in order to not have freckles. If we notice, I-2 has some
children who do not have freckles. In order to produce children with a genotype of ff, I-2 must be able to donate
a f allele.

We can therefore conclude that her genotype is Ff.

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Example: X-linked recessive trait

The diagram shows the inheritance of colorblindness in a family. Colorblindness is a recessive and X-linked trait .
The allele for normal vision is dominant and is represented by
In generation I, neither parent has the trait, but one of their children (II-3) is colorblind. Because there are
unaffected parents that have affected offspring, it can be assumed that the trait is recessive. In addition, the trait
appears to affect males more than females (in this case, exclusively males are affected), suggesting that the trait may
be X-linked.
What is the genotype of individual III-2?
We can determine the genotype of III-2 by looking at her children. Since she is an unaffected female, she must have
at least one normal vision allele. Her two genotype options are then

However, her son (IV-1) is colorblind, meaning that he has a genotype of . Because males always get
their X chromosome from their mothers (and Y from their fathers), his colorblind allele must come from III-2.

We can then determine that III-2's genotype is , so she can pass the on to her son.
Common mistakes and misconceptions
 The presence of many affected individuals in a family does not always mean that the trait is dominant. The
terms dominant and recessive refer to the way that a trait is expressed, not by how often it shows up in a
family. In fact, although it is uncommon, a trait may be recessive but still show up in all generations of a
pedigree.
 You may not always be able to determine the genotype of an individual based on a pedigree. Sometimes
an individual can either be homozygous dominant or heterozygous for a trait. Often, we can use the
relationships between an individual and their parents, siblings, and offspring to determine genotypes.
However, not all carriers are always explicitly indicated in a pedigree, and it may not be possible to
determine based on the information provided.
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Genetic testing
- These are usually DNA tests used to identify changes in
chromosomes, genes or proteins.
- Results can confirm or rule out a possible genetic disorder.
- These tests can also determine the chances of a person
developing the condition or passing it on to his/her offspring.

Genetic counseling
- This usually occurs after a DNA test has confirmed the occurrence or risk of a
genetic disorder.
- Genetic counsellors give support to people with genetic disorders and their
families by:-
o Providing information to help them understand the nature and effects of
the disorder.
o Supporting the family members.
o Giving guidance on how to manage the disease.
o Calculating the probability of the disorder re-occurring.
o Provide information to people who have a risk of transferring the genetic
disorder to their children.
(Remember CIGS – Calculating,Information,Guidance,Support.)
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Genetic Engineering
What is genetic engineering?
- This is the direct manipulation of the genes of an organism. (also known as genetic modification)
- A genetically modified organism (GMO) is a broad term that refers to any organism (plant, animal or
microbe) whose genetic material has been altered using genetic engineering techniques. This alteration
can involve adding, deleting or modifying genes.
- A transgenic organism is a type of GMO that has had a gene or DNA sequence from another species
introduced into its genome usually to obtain a desired characteristic.
- Genetic engineering can also be used to replace faulty or missing genes that result in genetic disorders
to ensure the correct protein is synthesized.
- The basic process includes the following steps:
 Identify relevant gene in a healthy cell; extract it and cut from the DNA
 Insert the isolated gene into the defective cell by means of a vector (organism that transfers
something: usually viruses or bacteria)
 The inserted gene becomes integrated into the organism’s genome.
 The correct protein is now synthesized and the desired trait is expressed in the phenotype.
- Genetic engineering will result in the formation of a new DNA sequence in the recipient cell, thus it is
known as recombinant DNA.
- The organism that possesses the recombinant DNA is the transgenic organism that can now synthesize
the protein coded for by the new gene.
- Gene therapy: integration of genes (for therapeutic purposes) in cells with faulty or missing genes.

The importance of genetic engineering and GMOs

- It affects many aspects of our lives and plays a role in :
 Synthesis of medicinal drugs
 Cloning
 Production of new crops
 Stem cell research
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Genetic engineering in medicine

1. The production of insulin using recombinant DNA technology.
- Diabetes mellitus is a disease where the pancreas does not produce enough insulin. Type-1 diabetics can
be treated successfully with daily insulin injections.
- Previously, animal insulin (from cattle and pigs) was used.
- This was expensive, does not control blood sugar as effectively as human insulin, and often has side
effects. There are also ethical objections to using animal insulin.

Scientists working in a facility for the

production of recombinant human
insulin. Recombinant insulin is obtained
from micro-organisms, in this case yeast,
which have been genetically engineered
to produce insulin. The yeast is
fermented in these large metal vats.

Usually E.coli

This is the
recombinant
DNA
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2. The production of vaccines

- Our immune system responds to certain proteins on the surface of viruses. These are known as antigens.
- Certain bacteria and plants can be genetically modified to produce antigens of certain viruses.
- It is possible to extract the DNA, which codes for the antigen from the virus, and splice it into a bacterial
plasmid or yeast cell.
- The bacteria then starts to produce the antigen and displays it on its surface.
- The bacteria are cultured and added to a vaccine, which is injected into the person.
- The person’s immune system responds to the antigens and produces antibodies.
- If the person is exposed to the virus, she already has the antibodies for the virus’s antigens so the virus is
immediately disabled.
- Antigens of the Hepatitis B virus are produced by genetic engineering in yeast cells (fungi).
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Genetic engineering in agriculture

- Selective breeding/artificial selection is a natural form of geetic modification that has been used by farmers
for hundreds of years. It is used to control the reproduction of plants and animals in such a way that each
new generation will have the most desirable traits of their parents.
- A plant or animal produced by cross-breeding is called a hybrid
- Hybrid vigour refers to the improvement of particular qualities in a hybrid
- In selective cultivation, genes from plants or animals of the same species are combined naturally, whereas in
genetic engineering any gene from any species may be transferred to a plant or animal.

1. The production of genetically modified crops

- Genes for desirable traits are identified and isolated from a variety of organisms.
- These genes are then inserted into the DNA of plant cells, which take on the desirable traits.
- This is done using either a gene gun or harmless bacteria.
- The plant cells take up the DNA and divide to form a large number of engineered cells.
- These cells are then cultivated on a growth medium to form new plants, each displaying the desirable
characteristic.

A plasmid is a circle of
DNA which is not part of
a chromosome and which
replicates independently

Bacterialplasmid
plasmid
This DNA is known as
A plasmid
The bacterium used is recombinant DNA
Escheria coli or E coli.

In this way the bacteria can insert the

recombinant DNA into every cell
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Polyploidy
- This is a state in which there are more than two sets of chromosomes.
- It occurs due to abnormal meiosis where the chromosomes do not separate properly during anaphase.
- It is possible to deliberately prevent the separation of chromosomes using chemicals.
- This creates diploid gametes and hybrids eg. tetraploid (4n) individuals.
- The advantages of this can include:-
o Larger flowers, fruit, storage organs and seeds.
o Fruit without seeds e.g. seedless bananas, watermelons and grapes.
o Greater resistance to disease.

Advantages and disadvantages of GMOs

Advantages
- Resistance to disease makes the harvest more reliable and cheaper because the farmer does not have to
spray his crop.
- This is more environmentally friendly as there are less chemicals released.
- It is also healthier as the chemicals are not good for us either.
- Resistance to herbicides - this allows the farmer to spray weeds without killing his crop.
- Larger, better yields – gives a bigger harvest and improved yields in wool, meat, milk and eggs.
- Food can be modified to be more nutritious, tastier and have a longer shelf life.
- Can allow the crop to better survive unfavorable conditions like frost, or a drought.
- Using bacteria, for instance to manufacture insulin is cheaper, quicker and more ethically acceptable
than, for instance, breeding and slaughtering pigs.
- Certain genetically modified sheep produce human proteins in their milk used to treat human medical
conditions.

Disadvantages
- Some people question the potential negative effects of GMOs on our health. E.g. could cause allergies.
- It decreases biodiversity as indigenous species are removed to make space for GM crops.
- It is possible that cross-pollination could allow the new gene to move into wild stock with negative,
unpredictable effects e.g. a pesticide resistant gene accidentally incorporated into the weed gene pool.
- The cost of the modified seed could see a rise in food prices. Farmers have to buy new seeds every year.
- The cost of biotechnology is very high.
- Ethically many people are against the concept of mixing genes. For instance if a gene from a pig was
introduced into chickens would it be ethical for a Jewish person to eat such a chicken?
- The rights of humans to change the natural order of life?
- SA is among the seven leading GM agricultural countries in the world, with the majority of its soy and
maize genetically modified.
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BIOTECHNOLOGY
Biotechnology is a broad term, which covers any use of living organisms and their biological processes to develop
technology and products aimed at improving the quality of human life. GMOs are one branch of biotechnology.

Cloning
- This is a general term covering the production of genetically identical replica of molecules (like DNA),
cells or entire organisms.
- We can distinguish three categories of cloning:-
o DNA cloning
o Therapeutic cloning
o Reproductive cloning

DNA Cloning

- This is the transfer of a segment of DNA from one organism to a bacterial plasmid as discussed
previously.

Therapeutic cloning

- Also known as embryonic cloning.

- Cells removed from an embryo at an early stage, which each grow into a new embryo. These can then
be used for research purposes or to harvest stem cells.

Reproductive cloning

- This process produces an animal which is genetically identical to another animal.

- There are two categories of reproductive cloning – embryo splitting and nuclear transfer.
-
Embryo splitting
- At an early stage, the embryo is split into separate, identical embryos
- These are implanted into other females for further development until birth

Nuclear Transfer can be embryonic or non-embryonic

Embryonic nuclear transfer:

- Cells are extracted from young embryos.

- Cells are treated to develop into separate embryos.
- Embryos are implanted into the uterus.
- Many identical offspring with desired characteristics may be produced from cells extracted from the
same embryo.

Non-embryonic nuclear transfer/Somatic cell nuclear transfer (SCNT):

- A nucleus is removed from a somatic (body) cell.

- An ovum is removed from another individual of the same species and its nucleus is also removed, and is
replaced by the nucleus taken from the somatic cell of the first individual.
- The ovum now contains the genes of the first individual.
- Electric currents are used to stimulate cell division which results in an embryo.
- The embryo is transferred to the uterus of the second individual where it grows and is eventually born.
- The new animal is genetically identical to the first animal.
- The first animal cloned from an adult somatic cell was a sheep called Dolly. She only lived for 6 years.
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Cloning and mitochondrial disorders

- Some people suffer from serious mitochondrial genetic disorders
- The healthy nucleus is removed from the cell with the mutant mtDNA (remember mitochondria are in
the cytoplasm) and transferred into a healthy enucleated donor ovum.
- The ovum is stimulated to divide to form a healthy embryo.

Cloning in plants
- This is much simpler than in animals.
- Somatic plant cells can be encouraged to grow into new plants merely by applying the correct growth
medium and plant hormone.

Viewpoints against cloning

- It decreases genetic variation and biodiversity is lost.
- It goes against some people’s ethic and religious beliefs.
- It is expensive.
- It is unnatural and against nature’s selection process.
- Cloned animals are more prone to health problems such as weak immunity, accelerated aging and
premature death
- The long term effects of human cloning are largely unknown
- Who takes responsibility for a newly cloned individual?
- What are the legal implications?
- Who will control the biotechnology?
- Experimentation on people is unethical
- Individuals formed from mtDNA cloning have 3 parents: fathers nuclear DNA, mothers nuclear DNA and
mtDNA from the donor ovum.
- Funds used to support this research may be used for more urgent, basic needs.

Viewpoints in favour of cloning

- Could provide hope for couples who cannot have children.
- We may eventually be able to clone organs to replace diseased organs.
- Improved food production.
- Could be used to save threatened species e.g. if only one individual remains.
- Production of ‘fit’ individuals with a ‘good’ set of genes
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Stem cell research.

- This is a rapidly growing field of study
- Stem cells are simple, undifferentiated somatic cells.
- They are not specialized for a particular function.
- They have the ability to divide by mitosis to generate new cells.
- When a stem cell divides into two, one daughter cell differentiates and the other retains the ability to
divide. This ensures that there is always a future source of stem cells.
- Since each stem cell contains the entire genome of the individual, it can be stimulated to divide into any
tissue type.
- As research continues scientists hope that, one day, they will be able to grow entire organs from stem
cells.
- Advances in this field give hope for people with brain or spinal injuries.

Sources of stem cells.

Embryonic stem cells.

- These are obtained from an early embryo (blastocyst).

- They can be persuaded to divide into any cell type – they are therefore said to be pluripotent.
- These cells are obtained from surplus embryos that are not needed during in vitro fertilization.

Foetal stem cell

- These cells are at a later stage of development than embryonic stem cells
- Multipotent: can differentiate into multiple, but not all cell types
- There are a number of possible sources of these
o Umbilical cord at birth.
o Amniotic fluid
o Placenta.
o Foetus from a terminated pregnancy

Adult stem cells

- These can be obtained from

o Bone marrow
o Blood
o Heart
o Brain
o Adipose tissue
o Molar teeth (children)
- They are known as multipotent cells because they can differentiate into a number of related tissues

Induced pluripotent stem cells (iPS cells)

- These are obtained from adult stem cells, which have been genetically reprogrammed to function like
embryonic stem cells.
- Thus, they become pluripotent and differentiate into any tissue type.
- The body does not reject these cells as they ‘belong’ to the patient and therefore no drugs are necessary
to suppress the immune system.
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(Highest development
potential)

Least versatile
stem cell
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Uses of stem cells.

- Harvested stem cells are placed in a damaged area and stimulated to develop into the same cell type.
- Stem cells are not rejected by the immune system if they are harvested from the same individual – they
have the same DNA.
- Muscle cells may be grown in tissue culture to form meat – an alternative for vegetarians.
- There are ethical issues associated with the use of stem cells from surplus embryos.