Bio genetics
Gregor Mendel (1822 – 1884) is considered the father of
genetics. He was an Austrian monk who studied and taught
Natural science and Mathematics.
Mendel is famous for the experiments he performed on pea
plants. He chose the pea plant because the flowers are SELF-POLLINATING – pollen from
a pea plant lands on the stigma of the same flower and fertilizes itself. Also, pea plants could easily be
CROSS-FERTILISED artificially to produce a HYBRID. Hybrids are new types of plants formed by cross-
fertilising different varieties of the same species.
He first grew many varieties of pea plants – making sure that each of these plants was PUREBRED – that is
when it pollinated itself, succeeding generations always looked like the parent plant. Then Mendel began
to cross purebred plants that differed in only one characteristic such as height. He called this cross a
MONOHYBRID CROSS. He always chose contrasting traits – height of plant (tall or dwarf), shape of seed
(round or wrinkled) – colour of seeds (Yellow or green).
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To cross two plants, he and his helpers spread pollen from the stamens of the plant with one trait, such as
a dwarf plant, onto the stigma of the plant with the opposite trait, such as a tall plant.
When the seeds developed – Mendel planted them and recorded what the offspring looked like. He carried
out his experiments over 8 years and recorded results from over 10 thousand different plants. The
Scientists from that time thought that the characteristics of both parents blended together
Based on the his investigations, Mendel proposed 3 laws of inheritance collectively known as Mendel’s
Laws of Inheritance as summarised below:
1. LAW OF DOMINANCE: dominant ‘factor’ masks the recessive one.
2. LAW OF SEGREGATION: During formation of gametes, the paired ‘factors’ segregate/separate and
each gamete receives one of the ‘factors’.
3. LAW OF INDEPENDENT ASSORTMENT: factors which control different characteristics (different genes)
such as height of the plant and colour of the seed segregate randomly and independently of each
other during gamete formation.
4.
Later discoveries in 1870 – threadlike structures found in the cell nuclei – named CHROMOSOMES.
Chromosomes believed to carry the hereditary “factors” that Mendel had referred to. The “factors” were
named GENES.
We now know that there are many genes in each chromosome. Geneticists think
that there are about 25 000 genes on the chromosomes in each human cell. A
GENE is a small piece of DNA in the chromosome which carries information about a
particular characteristic in our body and is the unit of inheritance.
Each gene is found in a
particular position or LOCUS
on a chromosome. The
different forms of the same
gene is known as an ALLELE. It is found in the same
position on the corresponding homologous
chromosome. One allele comes from the mother and
the other from the father. The set of all genes in any
population of a particular species is referred to as the
GENE POOL.
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FILIAL GENERATION refers to a generation in a breeding
experiment that is successive to a mating between
parents of two distinctively different but usually
relatively pure genotypes. Often referred to as F1 or F2
depending on the generation.
A GENOME is an organism’s complete set of DNA,
including all of its genes. Each genome contains all of the
information needed to build and maintain that organism.
In humans, a copy of the entire genome—more than 3
billion DNA base pairs—is contained in all cells that have
a nucleus.
If the alleles for a particular characteristic are the same ie they both code for curly hair the organism is
HOMOZYGOUS for that characteristic. If the two alleles are different – one codes for curly hair and the other
for straight hair – the organism is HETEROZYGOUS for that characteristic. (is also known as a HYBRID)
One of the alleles in a heterozygous genotype may be DOMINANT and that characteristic will be visible in
the phenotype eg Brown eyes are dominant to blue eyes. If a person is heterozygous for eye colour (has a
brown and a blue gene – then they will always have brown eyes. The blue eye allele is a RECESSIVE gene –
you will only have blue eyes if BOTH your genes code for blue eyes.
The genetic representation of the alleles is known as the GENOTYPE. There are 3 different forms of
genotypes:
• HOMOZYGOUS DOMINANT: both forms of the gene in the allele are dominant: BB (represented by 2
capital letters)
• HETEROZYGOUS DOMINANT: one version of the allele is dominant, and one version is recessive, the
dominant gene will mask the effects of the recessive gene, and the genotype is said to be
dominant, but because there are 2 versions of the allele – it is said to be heterozygous.
(represented by 1 capital letter, and 1 lower case letter - Bb). This individual will be known as a
CARRIER of the recessive gene.
• HOMOZYGOUS RECESSIVE: both genes in the allele are recessive. As there is no dominant gene to
mask the effects of the recessive gene, the recessive gene will be visible in the appearance of the
individual. The genes are both represented by lower case letters – bb).
The outward appearance of the characteristic is known as the PHENOTYPE. Eg: brown hair, tall, spotted
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To understand how characteristics are inherited, we draw genetic diagrams. A genetic diagram shows the
genotypes and phenotypes of a cross between two parents. GENOTYPE refers to the genetic factors present
in an organism. PHENOTYPE refers to the visible expression of the genotype – the way an organism looks
due to its genotype.
A cross where only one hereditary trait/characteristic is investigated at a time, is known as a MONOHYBRID
CROSS.
In genetic diagrams we use the following symbols:
1. Generations are represented by P1 F1 and F2.
P – parent generation
F1 - (1st filial) – first generation of offspring
F2 - (2nd filial) – second generation of offspring
2. Alleles of a gene are represented by capital and small letters. The first letter of the dominant trait is
chosen as the symbol eg tall is dominant to dwarf in plants therefore: T – tall plant, t – dwarf plant.
3. As there are two alleles for each characteristic, one on each chromosome in a homologous pair, we
write two letters. The dominant allele is always placed first:
❑ Purebred (homozygous) tall plant TT
❑ Purebred (homozygous) short plant tt
❑ Hybrid (heterozygous) tall plant Tt
4. When meiosis takes place during the formation of gametes, the homologous chromosomes separate.
Each gamete receives only one allele of a pair. If the pair is made up of different alleles, such as Tt, then
the gametes receive either a T or a t.
5. The easiest way to see how the gametes can recombine is to draw a PUNNET SQUARE.
The diagram that follows is the result of crossing a homozygous tall plant with a homozygous dwarf plant.
The F1 generation were allowed to self-pollinate to produce the F2 generation.
The two HETEROSOMES (also called GONOSOMES) carry information
that determine whether offspring will ultimately be male or female.
The female chromosome (X) does not EVER swop information with
the male (Y) chromosome. This means that the information
pertaining to the sex as well as the secondary sexual characteristics
is passed on to the offspring as a complete set of information.
The male (Y) chromosome is dominant to the female (X)
chromosome, which means that all males will carry a XY
chromosome set, while all females will carry a XX chromosome set.
1
3 5 7
8
2
4
10
6
9
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Certain characteristics or genetic diseases seem to occur more often in males than in females. This is due
to the structure of the sex chromosomes. The X chromosome has many genes on it. The Y chromosome is
very short and has very few genes on it.
If a gene on an X chromosome mutates, then the mutation will be seen in the male because he only has
one gene for that characteristic, on his X. If the mutation is recessive, it will only be seen in the female if
both the X chromosomes have that allele.
This disease is caused by mutations to very large genes. Duchenne muscular dystrophy occurs when a gene
on the X chromosome fails to make an essential muscle protein DYSTROPHIN. The disease begins in early
childhood and causes progressive loss of muscle strength and bulk. People with this disease usually die in
their 20s from respiratory or cardiac muscle failure. As a result of this disorder most often being fatal in a
person’s 20’s there is little to no chance that affected son or daughter would have offspring.
If a mother that is a carrier for the gene (XDX
d
) has children with a father who does not have the gene (XDY).
Remember that this is a recessive gene and is therefore represented as a ‘d’. The punnet square look as
follows:
X
D X
d
X
D X
D X
D X
D X
d
Y X
D Y X
d Y
X
D X
D –Unaffected daughter
X
D X
d – Affected daughter
X
D Y – unaffected son
X
d Y – affected son
DO NOT ADD ANY LETTER TO THE Y CHROMOSOME SINCE THE Y CHROMOSOME DOES NOT HAVE AN ALLELE TO
COUNTERACT THE RECESSIVE ALLELE FOR HAEMOPHILIA AND COLOUR-BLINDNESS.
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Colour blindness is a visual defect resulting in an inability to
distinguish between certain colours.
It is caused by an abnormality of the pigments of the retinal
cones. When only one pigment is absent, the individual will
have a problem distinguishing between red and green. This
condition is known as red-green colour blindness and it is
the most common form of colour blindness.
The gene for colour blindness is recessive and it is carried on
the X chromosome. Men have one X chromosome, whereas
women have two. 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. If a woman carries a normal
dominant allele as well as an abnormal recessive allele on her X chromosome, she will be able to
distinguish colour normally, because the dominant normal allele masks the abnormal recessive allele.
Although the woman will not be colour blind, she is a carrier of the recessive gene which she may transfer
to her offspring.
A colour blind man can only transfer the recessive gene on his X chromosome to his daughter. The
daughter will probably only be a carrier and not be colour blind herself, as her other X chromosome (from
her mother) will probably carry the dominant normal gene. If this daughter has a son, she may transfer the
recessive gene to him on one of her X chromosomes. Therefore he will be colour blind because the Y
chromosome received from his father does not carry the dominant normal gene.
If a mother that is a carrier for the gene (XBX
b
) has
children with a father who does not have the
gene (XBY). Remember that this is a recessive
gene and is therefore represented as a ‘b’. The
punnet square look as follows:
X
B X
b
X
B X
B X
B X
B X
b
Y X
B Y X
b Y
X
B X
B –Unaffected daughter
X
B X
b – Affected daughter
X
B Y – unaffected son
X
b Y – affected son
If a mother that is a carrier for the gene (XBX
B
) has
children with a father who does not have the
gene (XbY). Remember that this is a recessive
gene and is therefore represented as a ‘b’. The
punnet square look as follows:
X
B X
B
X
b X
B X
b X
B X
b
Y X
B Y X
B Y
X
B X
b – Carrier daughter
X
B Y – unaffected son
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Haemophilia is also a sex-linked disorder, but it is a more serious condition than colour blindness. It is a
condition where the blood takes a long time to clot, due to an important clotting factor. Haemophilia is a
gene mutation cause by a recessive gene on the X chromosome.
POLYGENIC TRAITS are controlled by two or more than two
genes (usually by many different genes) at different loci on
different chromosomes. These genes are described as
polygenes. Examples of human polygenic inheritance are
continuous characteristics such as height, skin colour and
weight. Polygenes allow a wide range of physical traits. For
instance, height is regulated by several genes so that there will
be a wide range of heights in a population.
MUTATIONS occur when the DNA structure of a gene changes,
forming a new allele of that gene. The change in DNA structure changes the information the allele gives to
the cell.
Mutations can either be:
❑ CHROMOSOMAL – damage to the chromosome due to UV, cosmic rays, X-rays, radiation.
❑ POINT – a single pair of nucleotides in a certain point in the DNA is replaced by a different base pair
o substitution
o deletion
o insertion
SOMATIC MUTATIONS occur in somatic cells
eg kidney, bone, skin. They may damage or
kill the cell or convert it into tumour cells
that can become cancerous. When the cell
divides mitotically. the mutation is
transferred to all the daughter cells within
the tissue or organ. Metastasis may occur
when these cancer cells spread throughout
the body. These somatic mutations die
when the cells die or when tumour cells are
killed.
GERMLINE MUTATIONS occur in eggs or
sperm. They can be passed onto the zygote
which will then have the mutation present
in every one of its cells. The next generation
of gametes will carry the mutation so it will
be passed down to the next generation.
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Some mutations may be BENEFICIAL – they may give an organism a selective advantage. Natural selection
and evolution is based on the principle that during our evolutionary history, genes mutated and formed
new alleles. These new alleles can lead to genetic variation.
Some mutations change the gene so that the allele formed
cannot function – in albinism, the pigment melanin is not
produced in the skin, hair and eyes. Some mutations change
the message a gene gives – a person can develop 6 fingers
instead of 5 (polydactylism).
Some mutations change physical characteristics but do not
effect body functioning: eye colour, tongue-rolling, ear-lobes
etc. They are HARMLESS mutations.
However, some mutations are HARMFUL. Some alleles can
cause diseases and even death. This is because the allele is not coding for the production of an important
substance that is needed either during development or in adulthood. Most of these disorders are
AUTOSOMAL RECESSIVE like sickle-cell ANAEMIA and ALBINISM. This allele is called a LETHAL ALLELE!
Autosomal disorders refer to disorders that occur in autosomal chromosomes (1 to 22). As this is not a sex-
linked genetic problem, no X and Y are used in calculating genetic probable outcomes.
A variety of letters can be used to indicate dominant and recessive alleles of genes. It is suggested that
letters that differ between capital and small case so it is clear in a punnet square which is the recessive vs
dominant. Good letters to use would be B/b; D/d; E/e etc but letters like S/s and C/c make it really difficult
to differentiate between.
Sickle-cell anaemia is a genetic disorder caused by a gene
mutation. It occurs in people in the malaria areas of
Central and West Africa as well as in the Mediterranean. In
this gene that codes for the formation of haemoglobin, the
nitrogenous base Adenine is replaced by Thymine in DNA
replication. This is a point substitution mutation. This leads
to the formation of abnormal haemoglobin (also known as
HAEMOGLOBIN S).
The abnormal haemoglobin causes the red blood cells to
become sickle-shaped and therefore they cannot
effectively fulfil their function of transporting oxygen.
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People are homozygous for these genes develop
serious form of anaemia known a SICKLE-CELL
ANAEMIA. Some for the sickle-shaped red blood cells
block the capillaries and prevent the movement of
normal red blood cells. This leads to poor blood
circulation and anaemia. People with this disease
have a very short life expectancy.
Although the person carrying the sickle-cell gene has
abnormal haemoglobin, there is still sufficient
normal haemoglobin for transporting oxygen. This person usually shows no or mild symptoms of anaemia.
This heterozygous condition is known as SICKLE-CELL TRAIT. Red blood cells with abnormal haemoglobin
(sickle-shaped) are quickly removed from the blood and destroyed in the spleen, as the body identifies
them as 'foreign'. These heterozygotes have a survival advantage in malaria areas and the mutant allele is
transferred to the offspring.
Many gene mutations are harmful, but the advantage for people who are heterozygous with respect to
sickle-cell anaemia, is that they have a degree of resistance to malaria. This is because the malaria-causing
Plasmodium multiplies in the red blood cells. Many infected sickle-shaped red blood cells are destroyed by
the body before the daughter parasites are formed or released. Therefore, these heterozygotes have a
significantly reduced chance of a serious malaria infection.
Cystic fibrosis was one of the first genetic disorders for which a lethal allele was identified. People carrying
this mutant gene cannot produce a special protein in the cells of their lungs. This protein is needed to
transport salts and water across the cell membranes into the cells. The salts and water collect in the air
passages, forming large amounts of sticky mucous that blocks the air passages to the lungs. People with
the disease find it difficult to breathe and also tend to get lung infections such as pneumonia. These
infections are usually the cause of death. Most people with cystic fibrosis die before the age of 30. In the
late 1980s, American researcher Lee-Chap Tsui discovered the position of the gene that causes cystic
fibrosis on chromosome 7. This knowledge helped doctors to diagnose the disease in children.
Cystic fibrosis is the most
widespread genetic
disease among white
people, affecting about
one in 2 000 babies. It is
estimated that one in 20
white Americans is a
carrier. Children of two
carrier parents each have
a one-in-four chance of
inheriting two defective
recessive alleles and
being born with this
disorder.
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Albinism is an inherited disease characterized by a substantially lower rate of melanin production. Melanin
is the pigment responsible for the color of the skin, hair, and eyes. People with albinism often have lighter
colored skin and hair than the other members of their family or ethnic group. Vision problems are also
common.
Melanin normally protects the skin from damage due to UV radiation exposure, so people with albinism
are more sensitive to sun exposure. They also have an increased risk of developing skin cancer as early as
the teenage years.
Genetic lineages refer to the “lines of inheritance” – or the way that the alleles of genes are passed from
generation to generation in a family. We can work out how alleles are inherited through several
generations by constructing a family tree which is also called a pedigree diagram.
A Family tree always has a KEY:
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An example of a family tree is given above which shows the incidence
Couples who would like to have children but have relatives in their families who have genetic diseases like
muscular dystrophy often go for genetic counseling to determine what the likelihood is of them having
children with the disease.
• STEP 1: a FAMILY TREE is drawn up. All the relatives over several generations are filled in with
details of who had the disease and who was clear. Once a couple know the chance of the mother
being a carrier and their future child having muscular dystrophy, they move on to the next step.
• STEP 2: The mother can go for GENETIC SCREENING. She can have her blood cells or other cells
tested using genetic fingerprinting to find out if she has the defective allele. During this procedure,
the DNA is placed in a solution containing radioactive DNA that will only attach to the gene for
muscular dystrophy. This special radioactive DNA is called a gene probe as it is used ONLY to find
the faulty gene.
• STEP 3: If a couple is at risk of having a child with muscular dystrophy, the genetic counselor will
speak to them further. They will DISCUSS the % chance of having an affected child, the effects of
the disorder on their new child, on any other children they may already have with or without the
disorder and on their own lives. They will explore all the options
available to them. The couple’s RELIGIOUS, MORAL AND CULTURAL
beliefs about termination of pregnancy will also be discussed before
attempting to fall pregnant.
• OPTIONS: After all the testing and discussions, the couple will have
THREE options;
✓ Not to have children.
✓ To start a pregnancy but abort if genetic tests during pregnancy
show that the foetus is affected.
✓ To have children regardless of the outcome. If any are affected
with muscular dystrophy, to try and give them a happy and fulfilling
life.
It is the manipulation of genes – the replacing of
defective genes with healthy alleles from another
individual OR using DNA from another organism to
produce the missing substance for the sick individual.
BIOTECHNOLOGY - is the use of plants, animals and
microbes (such as yeast and bacteria) to produce useful
products – bread and wine has been produced for
centuries using the fermentation process exhibited by
these organisms! Now scientists are using genetic
engineering techniques to alter the genetic material in
organisms to produce new and better products.
Genetically modified organisms are the result of genetic
engineering. GMOs are utilised in a variety of human
activities to improve quality of life or productivity. GMO's
may be microbes or plants or animals.
Genetic engineering affects many aspects of our lives and
our environment. It plays a role in:
• synthesis of medicinal drugs
• production of new crops
• cloning
• stem cell research
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GENE THERAPY is a medical approach that treats or prevents disease by correcting the underlying genetic
problem. Gene therapy techniques allow doctors to treat a disorder by altering a person's genetic makeup
instead of using drugs or surgery.
Gene editing is not a new development. There are a number of ways that genes can be edited by chemicals
and physical means (x-rays / radiation) however both these means are RANDOM. Biological means (CRISPR
Cas9) are new developments that are TARGETED – they can target gene specific mutations. The newest of
these is CRISPR CAS 9 (clustered Regularly inter-spaced short palindromic repeat).
Bacteria can be genetically engineered (genetically modified) to produce useful
human proteins. One advantage of using bacteria is that they can be grown in
large fermenters, producing large amounts of useful proteins.
In MEDICINE genetic engineering has been used to mass-produce insulin to treat
Diabetes, human growth hormones to help unnaturally short people to grow ... or
to give to cows to improve their milk production, follistim (for treating infertility),
human albumin (a vital blood protein), monoclonal antibodies to boost the
immune system, vaccines for treating Hepatitis B and many other drugs.
Insulin is a hormone that controls the level of sugar in a person’s blood. Diabetes mellitus is a disease where
the pancreas produces an insufficient amount of insulin. If there is too much sugar in the blood and the body
can’t use the sugar, the person could go into a coma and die. Type 1-diabetes can be treated successfully by
administering insulin injections on a daily basis. Previously, insulin was extracted in small amounts and at
huge cost from the pancreas’ of freshly slaughtered cattle and pigs.
A healthy gene allele can be “cut” from the chromosome of a healthy organism (human) and combined
with DNA from a bacterium. This DNA is called RECOMBINANT DNA. Scientists can manufacture huge
quantities of substances such as insulin for diabetics using genetic engineering. Each bacterium can
produce more than a billion copies of itself in 15 hours.
• Bacteria contain some of their genes in the form of ring-shaped molecules called PLASMIDS.
• Bacteria (E.coli) are ground and their plasmids extracted.
• RESTRICTION ENZYMES are used to
break open the plasmids.
• The gene for the production of insulin
is extracted from human DNA and
inserted into the bacterium plasmid
using an enzyme called DNA LIGASE
• Recombinant DNA is placed back into
the E.coli cell.
• E.coli multiples and starts producing
human insulin. IMPORTANT: large
quantities are produced
• Insulin is collected and purified and
used to control diabetes.
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Certain bacteria and plants can be genetically modified to produce antigens of certain viruses. ANTIGENS
are protein molecules that occur on the surface of cells and act as identifying markers. These antigens are
used in vaccines to trigger an immune response in the body. The body recognises the antigens as foreign
and produces antibodies in response. The antibodies provide immunity from infection by that particular
virus. Antigens of the Hepatitis B virus are produced by genetic engineering in yeast cells (fungi).
CRISPR CAS 9 is a gene editing tool that has been in the news a lot lately. It was found naturally occurring in
bacteria and was found to prevent the reproduction of viruses inside bacteria. Researchers are using it to
permanently modify genes to target, remove and repair mutated / unwanted sections of DNA and to
sterilize disease causing parasites
Geneticists hope to produce a
range of VECTORS to carry genes
into our bodies. One example is
using the adenovirus that
causes the common cold. This
virus is very successful at
infecting the lungs.
• The virus is made
harmless
• healthy genes are added
• and the virus is dripped
into the lungs of cystic
fibrosis sufferers
• where the healthy
genes start to begin
producing the missing
proteins.
Unfortunately, the genetically modified virus only lasts a few weeks in the lung cells before the immune
system destroys them. Scientists are still working on this as a possible cure for cystic fibrosis. The virus may
be put in an aerosol spray that the patient can inhale.
Selective cultivation/breeding of plants and animals is a natural form of genetic modification that has been
applied by farmers for hundreds of years Farmers make use of artificial selection to control the
reproduction of their plants and animals in such a way that each new generation will have most desirable
traits of the parents.
The improvement of particular qualities in a hybrid - a plant or animal produced by cross-breeding - is
known as hybrid vigour. Hybrid vigour shows the best qualities of the parents in the hybrid offspring. In
plants, cross-breeding resulted in higher yields and stronger offspring. In animals, hybrids have more of the
desired qualities required by breeders. E.g. Hybrid com has higher yields and hybrid chickens grow to a
larger size in a shorter period of time.
Genetic modification is an artificial method that speeds up this natural processes to achieve more accurate
results. In the selective cultivation of plants, genes from individual plants of the same species are
combined, while in genetic engineering any gene from any species may be transferred to a plant.
Ever since the ancient Egyptians selected wheat plants they harvested with large ears to grow their next crop
with, man has practiced selective breeding through artificial selection. Artificial selection is the process of
changing the characteristics of plants and animals by artificial means. For example, animal breeders, are
often able to change the characteristics of domestic animals by selecting for reproduction, those individuals
with the most desirable qualities such as speed in racehorses, milk production in cows, trail scenting in dogs.
The deliberate exploitation of artificial selection has become very common in experimental biology, in
genetics and microbiology, as well as in the invention and production of new drugs.
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There is no real difference in the genetic processes underlying artificial and natural selection, and the
concept of artificial selection was used by Charles Darwin as an illustration of the wider process of natural
selection. The selection process is termed "artificial" when human preferences or influences have a
significant effect on the evolution of a particular population or species. Indeed, many evolutionary biologists
view domestication as a type of natural artificial selection and adaptive change that occurs as organisms are
brought under the control of human beings.
HYBRID VIGOUR or OUTBREEDING ENHANCEMENT, is the increased function of any biological quality in a hybrid
offspring. It is the occurrence of a genetically superior offspring from mixing the genes of its parents.
Nearly all field corn (maize) grown in most developed nations exhibits hybrid vigour, or heterosis. Modern
corn hybrids substantially outyield conventional cultivars and respond better to fertilizer.
Experimental breeding of humans is considered unethical, so any evidence of heterosis in humans is derived
from observational studies. It has been suggested that many beneficial effects on average health,
intelligence and height have resulted from an increased heterosis, in turn resulting from increased mixing of
the human population such as by urbanization.
Read the following article for interest:
ARTIFICIAL SELECTION DONE NATURALLY!
CAPE BABOONS DISCOVER NEW FRUIT
12th January 2011
Cape Town - A troop of baboons has inadvertently discovered a new Minneola (citrus) cultivar for a farmer in the
Western Cape.
"Year after year the farm has been struck by a troop of baboons which descended from the mountains," van der
Merwe said. "The troop always selected one tree among thousands of trees in one of our orchards and devoured all
the fruit before our season really got going. "At closer inspection we discovered that the sweetness grade of this
particular minneola, a soft citrus variety, was much higher than the rest of the orchard and that it started bearing
fruit at least three weeks earlier than expected."
The farmers then set about grafting some shoots of this tree onto standard root stock and passed it onto the Citrus
Growers Association (CGA) at Uitenhage where the trees are now being multiplied in greenhouse tunnels. "This
process takes two years and as soon as we get the clearance from the CGA the trees will then be tested in real
orchards all over the country for a period of four years before it is officially registered," van der Merwe said.
The estate boasts the longest citrus season in the country - 10 months - and aims to produce citrus all year round
within the next four years.
"We were lucky that the baboons' acute sense of smell led them to this particular tree. It was clearly a case of a
spontaneous mutation in the orchard, which would have gone unnoticed were it not for the baboons. "I'm sure they
will have a feast one day when we produce a whole orchard of these early, sweet minneolas."
In plants, every cell can grow into a new plant. So plants can be CLONED by breaking them up into small pieces
or separating the cells, and new genes can be inserted into those cells. These genetically engineered cells
can develop into new plants. The Green Revolution started in the 1970’s to try and find an answer to feeding
the world. It is estimated that there will be about 30 billion humans by 2040.
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Around the world, geneticists are working to introduce new genes into plants to make them more
commercially productive. Crops are being modified to make them more resistant to drought, insects, viruses
and herbicides (weedkillers) and to improve the quality of the crop.
1. Sugar cane is being manipulated to produce a lot more sugar.
2. Super sorghum – will be more nutritious, more easily digestible, will have higher levels of Vitamin A
and E, iron, zinc and certain amino acids.
3. Golden rice – normal rice (the staple diet of many countries) is short of micronutrients such as Vit A
and iron. Vitamin A is found in a yellow pigment called carotene in many fruit and vegetables. Genes
from carotene producing plants have been placed into rice so that Golden rice produces Vit A and
another gene to increase iron content, will help prevent anaemia in those who eat this rice.
4. Crops that repel insects – save the farmer on expensive insecticides (and reduce impact on
ecosystems). Geneticists are using a bacterium Bacillus thuringiensis (Bt) found in the soil which
produces a protein that combines with enzymes in the insects gut and forms a poison that kills the
insect. The protein has no effect on people, animals or other insects – Bt bacteria are very specific
for the type of insect they kill. Geneticists introduce the gene for these proteins into the plants these
insects like to eat. Bt cotton is grown in KZN.
5. Crops that resist viruses
– GM maize prevents viruses from replicating and spreading.
- Cassava (a staple food in areas of low rainfall and poor soils in SA)
6. Crops resistant to herbicides – used to kill the weeds that grow among crops and compete for light,
moisture and nutrients resulting in poor crops with low yields.
7. Drought resistant plants. GM maize.
8. Around the world there are about 25 – 30 different Transgenic Crops.
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Scientists have been selectively breeding to make organisms bigger and better for centuries.
With genetic engineering, comes a great debate about whether it is good or bad.
❑ Protect them against parasites
❑ Improve their productivity
❑ Enable them to grow where they have never grown before
❑ Produce new products
❑ Bring hope of medical cures
❑ Increase yields in agriculture
❑ Perhaps even provide solutions to pollution and energy issues
❑ There is a lack of trust in GM foods – we simply don’t know all the risks.
❑ Politics and Economics are involved.
❑ Not all farmers have access to the technology.
❑ Lack of sustainability – especially in Africa. Farmers can’t afford the GM grain & seed.
❑ We simply don’t know the long term effects on human health – even though the oldest existing crop
has been eaten since 1990!
❑ Contamination of wild crops is a serious threat – although tests and legislation should control this.
❑ Labelling – Until this becomes law in the new legislation, people simply don’t know what they are
eating anymore.
• The farmers – Yields are 50% higher. They don’t have to spray. Much greater production per hectare
• Consumers – More nutritious foods that are readily available most seasons of the year.
• Multinational companies - who hold the patents on GM foods and seeds eg. Monsanto.
• Better pest control
• Herbicide tolerance
• Drought tolerance
• Safer foods
• Medicine can be incorporated into foods
• GM plants can clean up heavy metals in soil
eg from mine dumps
• Improved forestry
• Improved food security
–
Polyploidy is the condition of having three, four, or more sets of chromosomes instead of the two present in
diploids, like people. In plants, the process of polyploidy sometimes results in a new species, making it an
important mechanism in evolution. Cotton, potatoes and wheat are polyploids while maize and soybeans
retain some ancient polyploidy. Fossil records show over 80% of plants may be a product of polyploidy.
Advantages of polyploid farming include crops with multiple durable resistance to pests and diseases,
particularly in the absence of pesticides. Likewise, transgenes may assist in the development of high yielding
crops, which will be needed to feed the world and save land for the conservation of plant biodiversity in
natural habitats.
Genetic engineering of food crops makes more productive crops are
not the answer to world hunger. They say world hunger is caused by
many factors such as: the inability of poor farmers to borrow money
to but seeds and equipment, the lack of storage facilities, and poor
infrastructure for transporting and selling their produce. There is
also concern that multinational companies will control seed prices
in the future, and genetically engineered seed will be unaffordable.
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Some religious and vegetarian groups oppose genetic engineering because genes from animals they don’t
wish to eat could be inserted into crops that they do eat.
Transgenic organisms can contain genes from combinations of any of the following:
• Plant and plant
• Plant or animal and
virus
• Plant or animal and
bacteria
• Plant and animal
• Animal and animal
• Animal, virus or
bacteria and human
A gene from one species is transferred to the chromosomes of fertilized eggs or ova of another species. As
the animal develops, the new gene is present in every cell of the body.
Research is in progress to turn sheep and cows into drug factories in a new research area called
“PHARMING”– the fertilized ova will be given extra human genes. As adults, they could then produce useful
proteins in their milk, such as the clotting factor IX, which is needed by people with haemophilia B. This
protein can then be extracted from the milk and used to treat haemophiliacs.
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The development of the Pro-tato - a potato with more protein per
gram compared to the normal potato has been developed using
Amaranth Albumin 1 (AmA1), which is one of the genes of
Amaranth. This gene has its own agricultural value as it is the main
gene responsible for the growth of the plant as well as for the high
level of protein and increased chains of essential amino acids. A
result of two years of hard work, this new class was developed by
inserting the gene into seven various varieties of potatoes. These
are now commercially grown as transgenic potatoes.
Atlantic salmon have been
engineered to grow almost
double the size of the wild
variety (naturally occurring) to
improve food production for
northern European economies.
The GM salmon have huge
appetites and may outcompete
the wild salmon if they are
released into the oceans.
Spider silk used as artificial ligaments and
sutures.
Surgical sutures: Most surgeons use thread or
silkworm silk to stitch wounds back together,
but spider threads are even thinner. "That’s
very important for eye or nerve surgery, where
you might want something that’s very, very
thin," Lewis says. "Spider silk is also much
stronger. We already know it will work well as
a suture."
Goats have been genetically engineered to produce
milk which is rich in spider silk, by inserting the silk
gene from orb web spiders into fertilized eggs of
goats. As the goats grow and start producing milk,
the milk is collected and processed to remove the
spider silk. This gives a much quicker and larger
supply of spider silk than collecting it from spider
webs. The product is used in the manufacture of
bullet-proof vests and artificial tendons and suture
thread. Current research is underway to produce
airbags for motorcars from this silk
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Human genes have been inserted into bacteria to produce human
Gregor Mendel (1822 – 1884) is considered the father of
genetics. He was an Austrian monk who studied and taught
Natural science and Mathematics.
Mendel is famous for the experiments he performed on pea
plants. He chose the pea plant because the flowers are SELF-POLLINATING – pollen from
a pea plant lands on the stigma of the same flower and fertilizes itself. Also, pea plants could easily be
CROSS-FERTILISED artificially to produce a HYBRID. Hybrids are new types of plants formed by cross-
fertilising different varieties of the same species.
He first grew many varieties of pea plants – making sure that each of these plants was PUREBRED – that is
when it pollinated itself, succeeding generations always looked like the parent plant. Then Mendel began
to cross purebred plants that differed in only one characteristic such as height. He called this cross a
MONOHYBRID CROSS. He always chose contrasting traits – height of plant (tall or dwarf), shape of seed
(round or wrinkled) – colour of seeds (Yellow or green).
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To cross two plants, he and his helpers spread pollen from the stamens of the plant with one trait, such as
a dwarf plant, onto the stigma of the plant with the opposite trait, such as a tall plant.
When the seeds developed – Mendel planted them and recorded what the offspring looked like. He carried
out his experiments over 8 years and recorded results from over 10 thousand different plants. The
Scientists from that time thought that the characteristics of both parents blended together
Based on the his investigations, Mendel proposed 3 laws of inheritance collectively known as Mendel’s
Laws of Inheritance as summarised below:
1. LAW OF DOMINANCE: dominant ‘factor’ masks the recessive one.
2. LAW OF SEGREGATION: During formation of gametes, the paired ‘factors’ segregate/separate and
each gamete receives one of the ‘factors’.
3. LAW OF INDEPENDENT ASSORTMENT: factors which control different characteristics (different genes)
such as height of the plant and colour of the seed segregate randomly and independently of each
other during gamete formation.
4.
Later discoveries in 1870 – threadlike structures found in the cell nuclei – named CHROMOSOMES.
Chromosomes believed to carry the hereditary “factors” that Mendel had referred to. The “factors” were
named GENES.
We now know that there are many genes in each chromosome. Geneticists think
that there are about 25 000 genes on the chromosomes in each human cell. A
GENE is a small piece of DNA in the chromosome which carries information about a
particular characteristic in our body and is the unit of inheritance.
Each gene is found in a
particular position or LOCUS
on a chromosome. The
different forms of the same
gene is known as an ALLELE. It is found in the same
position on the corresponding homologous
chromosome. One allele comes from the mother and
the other from the father. The set of all genes in any
population of a particular species is referred to as the
GENE POOL.
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FILIAL GENERATION refers to a generation in a breeding
experiment that is successive to a mating between
parents of two distinctively different but usually
relatively pure genotypes. Often referred to as F1 or F2
depending on the generation.
A GENOME is an organism’s complete set of DNA,
including all of its genes. Each genome contains all of the
information needed to build and maintain that organism.
In humans, a copy of the entire genome—more than 3
billion DNA base pairs—is contained in all cells that have
a nucleus.
If the alleles for a particular characteristic are the same ie they both code for curly hair the organism is
HOMOZYGOUS for that characteristic. If the two alleles are different – one codes for curly hair and the other
for straight hair – the organism is HETEROZYGOUS for that characteristic. (is also known as a HYBRID)
One of the alleles in a heterozygous genotype may be DOMINANT and that characteristic will be visible in
the phenotype eg Brown eyes are dominant to blue eyes. If a person is heterozygous for eye colour (has a
brown and a blue gene – then they will always have brown eyes. The blue eye allele is a RECESSIVE gene –
you will only have blue eyes if BOTH your genes code for blue eyes.
The genetic representation of the alleles is known as the GENOTYPE. There are 3 different forms of
genotypes:
• HOMOZYGOUS DOMINANT: both forms of the gene in the allele are dominant: BB (represented by 2
capital letters)
• HETEROZYGOUS DOMINANT: one version of the allele is dominant, and one version is recessive, the
dominant gene will mask the effects of the recessive gene, and the genotype is said to be
dominant, but because there are 2 versions of the allele – it is said to be heterozygous.
(represented by 1 capital letter, and 1 lower case letter - Bb). This individual will be known as a
CARRIER of the recessive gene.
• HOMOZYGOUS RECESSIVE: both genes in the allele are recessive. As there is no dominant gene to
mask the effects of the recessive gene, the recessive gene will be visible in the appearance of the
individual. The genes are both represented by lower case letters – bb).
The outward appearance of the characteristic is known as the PHENOTYPE. Eg: brown hair, tall, spotted
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To understand how characteristics are inherited, we draw genetic diagrams. A genetic diagram shows the
genotypes and phenotypes of a cross between two parents. GENOTYPE refers to the genetic factors present
in an organism. PHENOTYPE refers to the visible expression of the genotype – the way an organism looks
due to its genotype.
A cross where only one hereditary trait/characteristic is investigated at a time, is known as a MONOHYBRID
CROSS.
In genetic diagrams we use the following symbols:
1. Generations are represented by P1 F1 and F2.
P – parent generation
F1 - (1st filial) – first generation of offspring
F2 - (2nd filial) – second generation of offspring
2. Alleles of a gene are represented by capital and small letters. The first letter of the dominant trait is
chosen as the symbol eg tall is dominant to dwarf in plants therefore: T – tall plant, t – dwarf plant.
3. As there are two alleles for each characteristic, one on each chromosome in a homologous pair, we
write two letters. The dominant allele is always placed first:
❑ Purebred (homozygous) tall plant TT
❑ Purebred (homozygous) short plant tt
❑ Hybrid (heterozygous) tall plant Tt
4. When meiosis takes place during the formation of gametes, the homologous chromosomes separate.
Each gamete receives only one allele of a pair. If the pair is made up of different alleles, such as Tt, then
the gametes receive either a T or a t.
5. The easiest way to see how the gametes can recombine is to draw a PUNNET SQUARE.
The diagram that follows is the result of crossing a homozygous tall plant with a homozygous dwarf plant.
The F1 generation were allowed to self-pollinate to produce the F2 generation.
The two HETEROSOMES (also called GONOSOMES) carry information
that determine whether offspring will ultimately be male or female.
The female chromosome (X) does not EVER swop information with
the male (Y) chromosome. This means that the information
pertaining to the sex as well as the secondary sexual characteristics
is passed on to the offspring as a complete set of information.
The male (Y) chromosome is dominant to the female (X)
chromosome, which means that all males will carry a XY
chromosome set, while all females will carry a XX chromosome set.
1
3 5 7
8
2
4
10
6
9
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Certain characteristics or genetic diseases seem to occur more often in males than in females. This is due
to the structure of the sex chromosomes. The X chromosome has many genes on it. The Y chromosome is
very short and has very few genes on it.
If a gene on an X chromosome mutates, then the mutation will be seen in the male because he only has
one gene for that characteristic, on his X. If the mutation is recessive, it will only be seen in the female if
both the X chromosomes have that allele.
This disease is caused by mutations to very large genes. Duchenne muscular dystrophy occurs when a gene
on the X chromosome fails to make an essential muscle protein DYSTROPHIN. The disease begins in early
childhood and causes progressive loss of muscle strength and bulk. People with this disease usually die in
their 20s from respiratory or cardiac muscle failure. As a result of this disorder most often being fatal in a
person’s 20’s there is little to no chance that affected son or daughter would have offspring.
If a mother that is a carrier for the gene (XDX
d
) has children with a father who does not have the gene (XDY).
Remember that this is a recessive gene and is therefore represented as a ‘d’. The punnet square look as
follows:
X
D X
d
X
D X
D X
D X
D X
d
Y X
D Y X
d Y
X
D X
D –Unaffected daughter
X
D X
d – Affected daughter
X
D Y – unaffected son
X
d Y – affected son
DO NOT ADD ANY LETTER TO THE Y CHROMOSOME SINCE THE Y CHROMOSOME DOES NOT HAVE AN ALLELE TO
COUNTERACT THE RECESSIVE ALLELE FOR HAEMOPHILIA AND COLOUR-BLINDNESS.
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Colour blindness is a visual defect resulting in an inability to
distinguish between certain colours.
It is caused by an abnormality of the pigments of the retinal
cones. When only one pigment is absent, the individual will
have a problem distinguishing between red and green. This
condition is known as red-green colour blindness and it is
the most common form of colour blindness.
The gene for colour blindness is recessive and it is carried on
the X chromosome. Men have one X chromosome, whereas
women have two. 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. If a woman carries a normal
dominant allele as well as an abnormal recessive allele on her X chromosome, she will be able to
distinguish colour normally, because the dominant normal allele masks the abnormal recessive allele.
Although the woman will not be colour blind, she is a carrier of the recessive gene which she may transfer
to her offspring.
A colour blind man can only transfer the recessive gene on his X chromosome to his daughter. The
daughter will probably only be a carrier and not be colour blind herself, as her other X chromosome (from
her mother) will probably carry the dominant normal gene. If this daughter has a son, she may transfer the
recessive gene to him on one of her X chromosomes. Therefore he will be colour blind because the Y
chromosome received from his father does not carry the dominant normal gene.
If a mother that is a carrier for the gene (XBX
b
) has
children with a father who does not have the
gene (XBY). Remember that this is a recessive
gene and is therefore represented as a ‘b’. The
punnet square look as follows:
X
B X
b
X
B X
B X
B X
B X
b
Y X
B Y X
b Y
X
B X
B –Unaffected daughter
X
B X
b – Affected daughter
X
B Y – unaffected son
X
b Y – affected son
If a mother that is a carrier for the gene (XBX
B
) has
children with a father who does not have the
gene (XbY). Remember that this is a recessive
gene and is therefore represented as a ‘b’. The
punnet square look as follows:
X
B X
B
X
b X
B X
b X
B X
b
Y X
B Y X
B Y
X
B X
b – Carrier daughter
X
B Y – unaffected son
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Haemophilia is also a sex-linked disorder, but it is a more serious condition than colour blindness. It is a
condition where the blood takes a long time to clot, due to an important clotting factor. Haemophilia is a
gene mutation cause by a recessive gene on the X chromosome.
POLYGENIC TRAITS are controlled by two or more than two
genes (usually by many different genes) at different loci on
different chromosomes. These genes are described as
polygenes. Examples of human polygenic inheritance are
continuous characteristics such as height, skin colour and
weight. Polygenes allow a wide range of physical traits. For
instance, height is regulated by several genes so that there will
be a wide range of heights in a population.
MUTATIONS occur when the DNA structure of a gene changes,
forming a new allele of that gene. The change in DNA structure changes the information the allele gives to
the cell.
Mutations can either be:
❑ CHROMOSOMAL – damage to the chromosome due to UV, cosmic rays, X-rays, radiation.
❑ POINT – a single pair of nucleotides in a certain point in the DNA is replaced by a different base pair
o substitution
o deletion
o insertion
SOMATIC MUTATIONS occur in somatic cells
eg kidney, bone, skin. They may damage or
kill the cell or convert it into tumour cells
that can become cancerous. When the cell
divides mitotically. the mutation is
transferred to all the daughter cells within
the tissue or organ. Metastasis may occur
when these cancer cells spread throughout
the body. These somatic mutations die
when the cells die or when tumour cells are
killed.
GERMLINE MUTATIONS occur in eggs or
sperm. They can be passed onto the zygote
which will then have the mutation present
in every one of its cells. The next generation
of gametes will carry the mutation so it will
be passed down to the next generation.
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Some mutations may be BENEFICIAL – they may give an organism a selective advantage. Natural selection
and evolution is based on the principle that during our evolutionary history, genes mutated and formed
new alleles. These new alleles can lead to genetic variation.
Some mutations change the gene so that the allele formed
cannot function – in albinism, the pigment melanin is not
produced in the skin, hair and eyes. Some mutations change
the message a gene gives – a person can develop 6 fingers
instead of 5 (polydactylism).
Some mutations change physical characteristics but do not
effect body functioning: eye colour, tongue-rolling, ear-lobes
etc. They are HARMLESS mutations.
However, some mutations are HARMFUL. Some alleles can
cause diseases and even death. This is because the allele is not coding for the production of an important
substance that is needed either during development or in adulthood. Most of these disorders are
AUTOSOMAL RECESSIVE like sickle-cell ANAEMIA and ALBINISM. This allele is called a LETHAL ALLELE!
Autosomal disorders refer to disorders that occur in autosomal chromosomes (1 to 22). As this is not a sex-
linked genetic problem, no X and Y are used in calculating genetic probable outcomes.
A variety of letters can be used to indicate dominant and recessive alleles of genes. It is suggested that
letters that differ between capital and small case so it is clear in a punnet square which is the recessive vs
dominant. Good letters to use would be B/b; D/d; E/e etc but letters like S/s and C/c make it really difficult
to differentiate between.
Sickle-cell anaemia is a genetic disorder caused by a gene
mutation. It occurs in people in the malaria areas of
Central and West Africa as well as in the Mediterranean. In
this gene that codes for the formation of haemoglobin, the
nitrogenous base Adenine is replaced by Thymine in DNA
replication. This is a point substitution mutation. This leads
to the formation of abnormal haemoglobin (also known as
HAEMOGLOBIN S).
The abnormal haemoglobin causes the red blood cells to
become sickle-shaped and therefore they cannot
effectively fulfil their function of transporting oxygen.
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People are homozygous for these genes develop
serious form of anaemia known a SICKLE-CELL
ANAEMIA. Some for the sickle-shaped red blood cells
block the capillaries and prevent the movement of
normal red blood cells. This leads to poor blood
circulation and anaemia. People with this disease
have a very short life expectancy.
Although the person carrying the sickle-cell gene has
abnormal haemoglobin, there is still sufficient
normal haemoglobin for transporting oxygen. This person usually shows no or mild symptoms of anaemia.
This heterozygous condition is known as SICKLE-CELL TRAIT. Red blood cells with abnormal haemoglobin
(sickle-shaped) are quickly removed from the blood and destroyed in the spleen, as the body identifies
them as 'foreign'. These heterozygotes have a survival advantage in malaria areas and the mutant allele is
transferred to the offspring.
Many gene mutations are harmful, but the advantage for people who are heterozygous with respect to
sickle-cell anaemia, is that they have a degree of resistance to malaria. This is because the malaria-causing
Plasmodium multiplies in the red blood cells. Many infected sickle-shaped red blood cells are destroyed by
the body before the daughter parasites are formed or released. Therefore, these heterozygotes have a
significantly reduced chance of a serious malaria infection.
Cystic fibrosis was one of the first genetic disorders for which a lethal allele was identified. People carrying
this mutant gene cannot produce a special protein in the cells of their lungs. This protein is needed to
transport salts and water across the cell membranes into the cells. The salts and water collect in the air
passages, forming large amounts of sticky mucous that blocks the air passages to the lungs. People with
the disease find it difficult to breathe and also tend to get lung infections such as pneumonia. These
infections are usually the cause of death. Most people with cystic fibrosis die before the age of 30. In the
late 1980s, American researcher Lee-Chap Tsui discovered the position of the gene that causes cystic
fibrosis on chromosome 7. This knowledge helped doctors to diagnose the disease in children.
Cystic fibrosis is the most
widespread genetic
disease among white
people, affecting about
one in 2 000 babies. It is
estimated that one in 20
white Americans is a
carrier. Children of two
carrier parents each have
a one-in-four chance of
inheriting two defective
recessive alleles and
being born with this
disorder.
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Albinism is an inherited disease characterized by a substantially lower rate of melanin production. Melanin
is the pigment responsible for the color of the skin, hair, and eyes. People with albinism often have lighter
colored skin and hair than the other members of their family or ethnic group. Vision problems are also
common.
Melanin normally protects the skin from damage due to UV radiation exposure, so people with albinism
are more sensitive to sun exposure. They also have an increased risk of developing skin cancer as early as
the teenage years.
Genetic lineages refer to the “lines of inheritance” – or the way that the alleles of genes are passed from
generation to generation in a family. We can work out how alleles are inherited through several
generations by constructing a family tree which is also called a pedigree diagram.
A Family tree always has a KEY:
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An example of a family tree is given above which shows the incidence
Couples who would like to have children but have relatives in their families who have genetic diseases like
muscular dystrophy often go for genetic counseling to determine what the likelihood is of them having
children with the disease.
• STEP 1: a FAMILY TREE is drawn up. All the relatives over several generations are filled in with
details of who had the disease and who was clear. Once a couple know the chance of the mother
being a carrier and their future child having muscular dystrophy, they move on to the next step.
• STEP 2: The mother can go for GENETIC SCREENING. She can have her blood cells or other cells
tested using genetic fingerprinting to find out if she has the defective allele. During this procedure,
the DNA is placed in a solution containing radioactive DNA that will only attach to the gene for
muscular dystrophy. This special radioactive DNA is called a gene probe as it is used ONLY to find
the faulty gene.
• STEP 3: If a couple is at risk of having a child with muscular dystrophy, the genetic counselor will
speak to them further. They will DISCUSS the % chance of having an affected child, the effects of
the disorder on their new child, on any other children they may already have with or without the
disorder and on their own lives. They will explore all the options
available to them. The couple’s RELIGIOUS, MORAL AND CULTURAL
beliefs about termination of pregnancy will also be discussed before
attempting to fall pregnant.
• OPTIONS: After all the testing and discussions, the couple will have
THREE options;
✓ Not to have children.
✓ To start a pregnancy but abort if genetic tests during pregnancy
show that the foetus is affected.
✓ To have children regardless of the outcome. If any are affected
with muscular dystrophy, to try and give them a happy and fulfilling
life.
It is the manipulation of genes – the replacing of
defective genes with healthy alleles from another
individual OR using DNA from another organism to
produce the missing substance for the sick individual.
BIOTECHNOLOGY - is the use of plants, animals and
microbes (such as yeast and bacteria) to produce useful
products – bread and wine has been produced for
centuries using the fermentation process exhibited by
these organisms! Now scientists are using genetic
engineering techniques to alter the genetic material in
organisms to produce new and better products.
Genetically modified organisms are the result of genetic
engineering. GMOs are utilised in a variety of human
activities to improve quality of life or productivity. GMO's
may be microbes or plants or animals.
Genetic engineering affects many aspects of our lives and
our environment. It plays a role in:
• synthesis of medicinal drugs
• production of new crops
• cloning
• stem cell research
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GENE THERAPY is a medical approach that treats or prevents disease by correcting the underlying genetic
problem. Gene therapy techniques allow doctors to treat a disorder by altering a person's genetic makeup
instead of using drugs or surgery.
Gene editing is not a new development. There are a number of ways that genes can be edited by chemicals
and physical means (x-rays / radiation) however both these means are RANDOM. Biological means (CRISPR
Cas9) are new developments that are TARGETED – they can target gene specific mutations. The newest of
these is CRISPR CAS 9 (clustered Regularly inter-spaced short palindromic repeat).
Bacteria can be genetically engineered (genetically modified) to produce useful
human proteins. One advantage of using bacteria is that they can be grown in
large fermenters, producing large amounts of useful proteins.
In MEDICINE genetic engineering has been used to mass-produce insulin to treat
Diabetes, human growth hormones to help unnaturally short people to grow ... or
to give to cows to improve their milk production, follistim (for treating infertility),
human albumin (a vital blood protein), monoclonal antibodies to boost the
immune system, vaccines for treating Hepatitis B and many other drugs.
Insulin is a hormone that controls the level of sugar in a person’s blood. Diabetes mellitus is a disease where
the pancreas produces an insufficient amount of insulin. If there is too much sugar in the blood and the body
can’t use the sugar, the person could go into a coma and die. Type 1-diabetes can be treated successfully by
administering insulin injections on a daily basis. Previously, insulin was extracted in small amounts and at
huge cost from the pancreas’ of freshly slaughtered cattle and pigs.
A healthy gene allele can be “cut” from the chromosome of a healthy organism (human) and combined
with DNA from a bacterium. This DNA is called RECOMBINANT DNA. Scientists can manufacture huge
quantities of substances such as insulin for diabetics using genetic engineering. Each bacterium can
produce more than a billion copies of itself in 15 hours.
• Bacteria contain some of their genes in the form of ring-shaped molecules called PLASMIDS.
• Bacteria (E.coli) are ground and their plasmids extracted.
• RESTRICTION ENZYMES are used to
break open the plasmids.
• The gene for the production of insulin
is extracted from human DNA and
inserted into the bacterium plasmid
using an enzyme called DNA LIGASE
• Recombinant DNA is placed back into
the E.coli cell.
• E.coli multiples and starts producing
human insulin. IMPORTANT: large
quantities are produced
• Insulin is collected and purified and
used to control diabetes.
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Certain bacteria and plants can be genetically modified to produce antigens of certain viruses. ANTIGENS
are protein molecules that occur on the surface of cells and act as identifying markers. These antigens are
used in vaccines to trigger an immune response in the body. The body recognises the antigens as foreign
and produces antibodies in response. The antibodies provide immunity from infection by that particular
virus. Antigens of the Hepatitis B virus are produced by genetic engineering in yeast cells (fungi).
CRISPR CAS 9 is a gene editing tool that has been in the news a lot lately. It was found naturally occurring in
bacteria and was found to prevent the reproduction of viruses inside bacteria. Researchers are using it to
permanently modify genes to target, remove and repair mutated / unwanted sections of DNA and to
sterilize disease causing parasites
Geneticists hope to produce a
range of VECTORS to carry genes
into our bodies. One example is
using the adenovirus that
causes the common cold. This
virus is very successful at
infecting the lungs.
• The virus is made
harmless
• healthy genes are added
• and the virus is dripped
into the lungs of cystic
fibrosis sufferers
• where the healthy
genes start to begin
producing the missing
proteins.
Unfortunately, the genetically modified virus only lasts a few weeks in the lung cells before the immune
system destroys them. Scientists are still working on this as a possible cure for cystic fibrosis. The virus may
be put in an aerosol spray that the patient can inhale.
Selective cultivation/breeding of plants and animals is a natural form of genetic modification that has been
applied by farmers for hundreds of years Farmers make use of artificial selection to control the
reproduction of their plants and animals in such a way that each new generation will have most desirable
traits of the parents.
The improvement of particular qualities in a hybrid - a plant or animal produced by cross-breeding - is
known as hybrid vigour. Hybrid vigour shows the best qualities of the parents in the hybrid offspring. In
plants, cross-breeding resulted in higher yields and stronger offspring. In animals, hybrids have more of the
desired qualities required by breeders. E.g. Hybrid com has higher yields and hybrid chickens grow to a
larger size in a shorter period of time.
Genetic modification is an artificial method that speeds up this natural processes to achieve more accurate
results. In the selective cultivation of plants, genes from individual plants of the same species are
combined, while in genetic engineering any gene from any species may be transferred to a plant.
Ever since the ancient Egyptians selected wheat plants they harvested with large ears to grow their next crop
with, man has practiced selective breeding through artificial selection. Artificial selection is the process of
changing the characteristics of plants and animals by artificial means. For example, animal breeders, are
often able to change the characteristics of domestic animals by selecting for reproduction, those individuals
with the most desirable qualities such as speed in racehorses, milk production in cows, trail scenting in dogs.
The deliberate exploitation of artificial selection has become very common in experimental biology, in
genetics and microbiology, as well as in the invention and production of new drugs.
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There is no real difference in the genetic processes underlying artificial and natural selection, and the
concept of artificial selection was used by Charles Darwin as an illustration of the wider process of natural
selection. The selection process is termed "artificial" when human preferences or influences have a
significant effect on the evolution of a particular population or species. Indeed, many evolutionary biologists
view domestication as a type of natural artificial selection and adaptive change that occurs as organisms are
brought under the control of human beings.
HYBRID VIGOUR or OUTBREEDING ENHANCEMENT, is the increased function of any biological quality in a hybrid
offspring. It is the occurrence of a genetically superior offspring from mixing the genes of its parents.
Nearly all field corn (maize) grown in most developed nations exhibits hybrid vigour, or heterosis. Modern
corn hybrids substantially outyield conventional cultivars and respond better to fertilizer.
Experimental breeding of humans is considered unethical, so any evidence of heterosis in humans is derived
from observational studies. It has been suggested that many beneficial effects on average health,
intelligence and height have resulted from an increased heterosis, in turn resulting from increased mixing of
the human population such as by urbanization.
Read the following article for interest:
ARTIFICIAL SELECTION DONE NATURALLY!
CAPE BABOONS DISCOVER NEW FRUIT
12th January 2011
Cape Town - A troop of baboons has inadvertently discovered a new Minneola (citrus) cultivar for a farmer in the
Western Cape.
"Year after year the farm has been struck by a troop of baboons which descended from the mountains," van der
Merwe said. "The troop always selected one tree among thousands of trees in one of our orchards and devoured all
the fruit before our season really got going. "At closer inspection we discovered that the sweetness grade of this
particular minneola, a soft citrus variety, was much higher than the rest of the orchard and that it started bearing
fruit at least three weeks earlier than expected."
The farmers then set about grafting some shoots of this tree onto standard root stock and passed it onto the Citrus
Growers Association (CGA) at Uitenhage where the trees are now being multiplied in greenhouse tunnels. "This
process takes two years and as soon as we get the clearance from the CGA the trees will then be tested in real
orchards all over the country for a period of four years before it is officially registered," van der Merwe said.
The estate boasts the longest citrus season in the country - 10 months - and aims to produce citrus all year round
within the next four years.
"We were lucky that the baboons' acute sense of smell led them to this particular tree. It was clearly a case of a
spontaneous mutation in the orchard, which would have gone unnoticed were it not for the baboons. "I'm sure they
will have a feast one day when we produce a whole orchard of these early, sweet minneolas."
In plants, every cell can grow into a new plant. So plants can be CLONED by breaking them up into small pieces
or separating the cells, and new genes can be inserted into those cells. These genetically engineered cells
can develop into new plants. The Green Revolution started in the 1970’s to try and find an answer to feeding
the world. It is estimated that there will be about 30 billion humans by 2040.
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Around the world, geneticists are working to introduce new genes into plants to make them more
commercially productive. Crops are being modified to make them more resistant to drought, insects, viruses
and herbicides (weedkillers) and to improve the quality of the crop.
1. Sugar cane is being manipulated to produce a lot more sugar.
2. Super sorghum – will be more nutritious, more easily digestible, will have higher levels of Vitamin A
and E, iron, zinc and certain amino acids.
3. Golden rice – normal rice (the staple diet of many countries) is short of micronutrients such as Vit A
and iron. Vitamin A is found in a yellow pigment called carotene in many fruit and vegetables. Genes
from carotene producing plants have been placed into rice so that Golden rice produces Vit A and
another gene to increase iron content, will help prevent anaemia in those who eat this rice.
4. Crops that repel insects – save the farmer on expensive insecticides (and reduce impact on
ecosystems). Geneticists are using a bacterium Bacillus thuringiensis (Bt) found in the soil which
produces a protein that combines with enzymes in the insects gut and forms a poison that kills the
insect. The protein has no effect on people, animals or other insects – Bt bacteria are very specific
for the type of insect they kill. Geneticists introduce the gene for these proteins into the plants these
insects like to eat. Bt cotton is grown in KZN.
5. Crops that resist viruses
– GM maize prevents viruses from replicating and spreading.
- Cassava (a staple food in areas of low rainfall and poor soils in SA)
6. Crops resistant to herbicides – used to kill the weeds that grow among crops and compete for light,
moisture and nutrients resulting in poor crops with low yields.
7. Drought resistant plants. GM maize.
8. Around the world there are about 25 – 30 different Transgenic Crops.
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Scientists have been selectively breeding to make organisms bigger and better for centuries.
With genetic engineering, comes a great debate about whether it is good or bad.
❑ Protect them against parasites
❑ Improve their productivity
❑ Enable them to grow where they have never grown before
❑ Produce new products
❑ Bring hope of medical cures
❑ Increase yields in agriculture
❑ Perhaps even provide solutions to pollution and energy issues
❑ There is a lack of trust in GM foods – we simply don’t know all the risks.
❑ Politics and Economics are involved.
❑ Not all farmers have access to the technology.
❑ Lack of sustainability – especially in Africa. Farmers can’t afford the GM grain & seed.
❑ We simply don’t know the long term effects on human health – even though the oldest existing crop
has been eaten since 1990!
❑ Contamination of wild crops is a serious threat – although tests and legislation should control this.
❑ Labelling – Until this becomes law in the new legislation, people simply don’t know what they are
eating anymore.
• The farmers – Yields are 50% higher. They don’t have to spray. Much greater production per hectare
• Consumers – More nutritious foods that are readily available most seasons of the year.
• Multinational companies - who hold the patents on GM foods and seeds eg. Monsanto.
• Better pest control
• Herbicide tolerance
• Drought tolerance
• Safer foods
• Medicine can be incorporated into foods
• GM plants can clean up heavy metals in soil
eg from mine dumps
• Improved forestry
• Improved food security
–
Polyploidy is the condition of having three, four, or more sets of chromosomes instead of the two present in
diploids, like people. In plants, the process of polyploidy sometimes results in a new species, making it an
important mechanism in evolution. Cotton, potatoes and wheat are polyploids while maize and soybeans
retain some ancient polyploidy. Fossil records show over 80% of plants may be a product of polyploidy.
Advantages of polyploid farming include crops with multiple durable resistance to pests and diseases,
particularly in the absence of pesticides. Likewise, transgenes may assist in the development of high yielding
crops, which will be needed to feed the world and save land for the conservation of plant biodiversity in
natural habitats.
Genetic engineering of food crops makes more productive crops are
not the answer to world hunger. They say world hunger is caused by
many factors such as: the inability of poor farmers to borrow money
to but seeds and equipment, the lack of storage facilities, and poor
infrastructure for transporting and selling their produce. There is
also concern that multinational companies will control seed prices
in the future, and genetically engineered seed will be unaffordable.
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Some religious and vegetarian groups oppose genetic engineering because genes from animals they don’t
wish to eat could be inserted into crops that they do eat.
Transgenic organisms can contain genes from combinations of any of the following:
• Plant and plant
• Plant or animal and
virus
• Plant or animal and
bacteria
• Plant and animal
• Animal and animal
• Animal, virus or
bacteria and human
A gene from one species is transferred to the chromosomes of fertilized eggs or ova of another species. As
the animal develops, the new gene is present in every cell of the body.
Research is in progress to turn sheep and cows into drug factories in a new research area called
“PHARMING”– the fertilized ova will be given extra human genes. As adults, they could then produce useful
proteins in their milk, such as the clotting factor IX, which is needed by people with haemophilia B. This
protein can then be extracted from the milk and used to treat haemophiliacs.
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The development of the Pro-tato - a potato with more protein per
gram compared to the normal potato has been developed using
Amaranth Albumin 1 (AmA1), which is one of the genes of
Amaranth. This gene has its own agricultural value as it is the main
gene responsible for the growth of the plant as well as for the high
level of protein and increased chains of essential amino acids. A
result of two years of hard work, this new class was developed by
inserting the gene into seven various varieties of potatoes. These
are now commercially grown as transgenic potatoes.
Atlantic salmon have been
engineered to grow almost
double the size of the wild
variety (naturally occurring) to
improve food production for
northern European economies.
The GM salmon have huge
appetites and may outcompete
the wild salmon if they are
released into the oceans.
Spider silk used as artificial ligaments and
sutures.
Surgical sutures: Most surgeons use thread or
silkworm silk to stitch wounds back together,
but spider threads are even thinner. "That’s
very important for eye or nerve surgery, where
you might want something that’s very, very
thin," Lewis says. "Spider silk is also much
stronger. We already know it will work well as
a suture."
Goats have been genetically engineered to produce
milk which is rich in spider silk, by inserting the silk
gene from orb web spiders into fertilized eggs of
goats. As the goats grow and start producing milk,
the milk is collected and processed to remove the
spider silk. This gives a much quicker and larger
supply of spider silk than collecting it from spider
webs. The product is used in the manufacture of
bullet-proof vests and artificial tendons and suture
thread. Current research is underway to produce
airbags for motorcars from this silk
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Human genes have been inserted into bacteria to produce human