I.B.

DIPLOMA BIOLOGY

GENETICS

Chromosomes, genes, alleles and mutations

Meiosis

Theoretical genetics

Genetic engineering and biotechnology

Reproduction
There are two very different ways of reproducing – asexual
reproduction and sexual reproduction. Asexual reproduction
involves one parent, producing more organisms completely identical
to itself. This form of reproduction is common in bacteria, and in the
smallest plants and animals.
There are many positive aspects to asexual reproduction:
 Only one organism needed to produce offspring – nobody has
to worry about finding a partner!
 Sperm don’t have the challenge of finding the egg and they
don’t have to fight to get into the egg when they find it.
 Lots of offspring are produced - population growth is very
rapid.

Asexual Reproduction is guaranteed. A sure thing!! Sexual

reproduction is far less efficient. So, why do we have sex? The
answer is variation.
Sexual reproduction involves the joining of different genetic
information. This mixing of genes results in offspring which show
much more variation than the offspring from asexual reproduction.
This is a great advantage in making sure the species survives.
That’s because the more variety there is in a group of individuals,
the more likely it is that at least a few of them will have the ability
to survive difficult conditions.
Link – Evolution: Bringing together new combinations of
genes helps species evolve and adapt to their environment.

GENETICS
When living organisms reproduce, they pass on characteristics to
their offspring. The offspring inherit the characteristics of their
species and also a variety of more individual characteristics. This is
called variation. Genetics is the study of variation and
inheritance.
The basic unit of inheritance is the gene.

Definition: A gene is a heritable factor that controls a

specific characteristic.

CHROMOSOMES, GENES AND ALLELES

A typical animal or plant cell nucleus contains thousands of genes.
Humans have approximately 40,000 genes in their nucleus.
All of the genes of an organism are known as the genome.

Definition: A genome is the whole of the genetic information

of an organism.

Genes are made of a molecule called DNA, which forms long strands
in the nucleus. A strand of DNA containing approximately 1,000
genes is called a chromosome.

In eukaryotes, proteins are always associated with

the DNA in chromosomes.
In most cells the nucleus contains two of each type of chromosome.
The cell therefore has two full sets of chromosomes. This is called
diploid. In any particular type of chromosome the same genes are
found arranged in the same sequence. The position of a gene on a
chromosome is called the gene locus.
Although one particular chromosome type always has the same
genes in the same sequence, the genes themselves can vary.
Different forms of many genes can be found. These are called
alleles of the gene.

Definition: An allele is one specific form of a gene, differing

from other alleles by one or a few bases only and occupying
the same gene locus as other alleles of the same gene.

Gene Mutation
Genes are almost always passed from parents to offspring without
being changed. Occasionally genes do change and this is called
gene mutation.

Definition: Gene mutation is a change to the base sequence

of a gene.

The smallest possible change is when one base in a gene is replaced

by another base. This type of gene mutation is called a base
substitution. Although only one base is changed, the consequences
can be very significant.
 Gene mutation is a change in the base sequence of an allele.
 The changed base sequence may produce a different amino
acid sequence in the protein translated.
 The changed base sequence may not change the protein
because of the degenerate nature of the genetic code.
 The expression of the mutated gene may or may not be
beneficial to the organism.
 Substances that cause mutation are called mutagens and
include chemicals and radiation.
Gene mutations can cause a genetic disease.
More than four thousand diseases have been
discovered in humans. Some examples are
sickle cell anaemia and Progeria.

Explain the consequence of a base

substitution mutation in relation to the
processes of transcription and
translation, using the example of sickle-
cell anaemia.

Sickle cell anaemia is a genetic disease. The disease is inherited not

contracted by infectious routes.

Sickle cell anaemia at the tissue level:

(a) Normal haemoglobin has

four proteins molecules, two
of these are changed in the
sickle cell mutation.

(b) The normal biconcave

disc shape of the red blood
cell is changed to a 'sickle'
shape.

(c) In addition to not

carrying oxygen correctly
(anaemia) the cells also
causes local clots
(infarctions) such as is
shown in the kidney
tubules. This leads to necrosis (death) of the tubules, kidney
damage, kidney failure and possible to death.

Genetics of Sickle Cell Anaemia:

 The gene loci for the normal beta chain of haemoglobin is on

chromosome 11
 The normal allele carried the triplet GAG
 This transcribed and translates into the negatively charged
Glutamic acid
 The mutation changes a single base (T replaces A) and this
transcribes and translates into the amino acid Valine
 Valine has a neutral charge and the result is a change in the
shape of the beta chain with long needle like structures
forming
MEIOSIS
Reproduction is very important to living things. It is during
reproduction that genetic information is passed on from parents to
their offspring. In eukaryote organisms, sexual reproduction involves
the union of sex cells, from two different parents. This process is
called fertilization and generates genetic diversity in a species. So
that the amount of genetic information does not double with each
generation, sex cells are produced with half the amount of genetic
information. Sex cells are called gametes; they contain a nucleus
with half the amount of genetic information, called a haploid
nucleus. Meiosis is the process by which hereditary information is
halved during the production of gametes.

Meiosis is a reduction division of a diploid nucleus (2n)

to form haploid nuclei (n).

Haploid and Diploid

DIPLOID – In most cells the nucleus contains two of each type
of chromosome (one maternal and one paternal). The cell
therefore has two full sets of chromosomes.
HAPLOID – In the sex cells or gametes the nucleus contains
only one of each type of chromosome and therefore has just
one set.

Homologous Chromosomes
In diploid cells each pair of chromosomes have the same genes,
arranged in the same sequence. However, they do not usually have
the same alleles of all of these genes. They are therefore not
identical but instead are homologous.

Homologous chromosomes form pairs within the nucleus and during

cell division. The pair shares certain structural characteristics:
 they are the same length
 they have the same shape
 they carry the same genes in the same gene loci

Homologous chromosomes have the same genes as each

other, in the same sequence, but not necessarily the same
allele of those genes.
Meiosis is achieved by halving the number of chromosomes:
1. During interphase, the chromosomes replicate. Each
chromosome consists of two identical chromatids.
2. At the start of meiosis I, homologous chromosomes pair up.
The homologous chromosomes exchange genetic material
with each other in a process called crossing over.
3. During meiosis II, the homologous pairs of chromosomes
separate. One of each pair goes to each of the two daughter
cells. The result is two diploid daughter cells.
4. In meiosis II, the two daughter nuclei divide again. This time
the chromatids of each chromosome separate. Meiosis II is
similar to mitosis. The end result is four haploid cells.

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Non- disjunction
Meiosis is sometimes subject to errors, for
example when homologous chromosomes
fail to separate at anaphase. This is called
non-disjunction. The result will be a gamete
that either has an extra chromosome or is
deficient in a chromosome. If the gamete is
involved in human fertilization, the offspring
will either have 45 or 47 chromosomes.
Gametes with one chromosome too few
usually die. Gametes with one chromosome
too many sometimes survive. An abnormal
number of chromosomes will often lead to a
person possessing a syndrome, i.e. a
collection of physical symptoms. For example Trisomy 21, also
known as Down’s syndrome is due to non-disjunction that leaves the
individual with three of chromosome 21 instead of two. Features of
the syndrome include hearing loss, heart and vision disorders,
mental and growth retardation.
Karyotypes and Karyotyping
The number and appearance of the chromosomes in an organism is
called the karyotype. Living organisms that are members of the
same species usually have the same karyotype.

Human male karyotype

From a karyotype, the gender of a person can be deduced and

chromosome abnormalities can be detected. The most useful time
to do this is before birth. Cells have to be obtained from the foetus.
There are two procedures for obtaining foetal chromosomes to
produce the karyotype:
1. Amniocentesis
A needle is passed through the abdominal and uterus walls of the
mother, using ultrasound to guide the needle. The needle is used to
withdraw a sample of the amniotic fluid from the amniotic sac of the
developing foetus. Cells from the foetus that can be found in the
amniotic fluid are cultured and then used to prepare a karyotype.
2. Chorionic villus sampling (CVS)
Cells are removed from the chorionic villi tissue in the placenta. It is
possible to insert the sampling tool through the vagina.

Once foetal cells have been obtained, they are incubated and
stimulated to divide by mitosis. Fluid is used to burst the cells, then
the chromosomes are spread out and an image is obtained. Finally
the chromosomes are arranged in pairs according to their size and
structure for analysis.

Task
Analyse a human karyotype to determine gender and whether non-
disjunction has occurred.
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THEORETICAL GENETICS

The fact that living organisms inherit traits from their parents has
been used since prehistoric times to improve crop plants and
animals through selective breeding. However, the modern science
of genetics, which seeks to understand the process of inheritance,
only began with the work of Gregor Mendel, often referred to as the
father of genetics, in the mid-19th century. He investigated
inheritance by crossing varieties of pea plants that had different
characteristics. Although he did not know the physical basis for
heredity, Mendel observed that organisms inherit traits via discrete
units of inheritance, which are now called genes.
Through his experiments with peas Mendel provided evidence
against previous theories of blending inheritance, in which it was
believed offspring display a blend of parental characteristics.
For example, Mendel crossed tall pea plants with short pea plants
and found that all the offspring (called the F1 generation) were
tall. He then crossed plants that were all from the F 1 generation – all
tall – and found that the offspring (called the F2 generation)
contained both tall and short plants.

Explaining Mendel’s 3:1 ratio

Mendel explained the results of his experiments using the terms
dominant character and recessive character. A hybrid plant, made
by crossing one parent having the dominant character (tall) with
another having the recessive character (short), always showed the
dominant character (tall).
He realised that pea plants pass on factors in their male and female
gametes and he used letters to designate these factors – an upper
case for the dominant character (T) and a lower case for the
recessive character (t).
The hybrid plants (F1) inherit one character from each parent but
when they produce gametes they pass on either the dominant or
the recessive character, not both. The characters therefore
separate. This is called segregation and it is the key to
understanding why inheritance is not blending.

Random fertilization of male and female gametes with dominant or

recessive factors allows different combinations of characteristics to
come together in the next generation.

The chance of a plant inheriting only recessive factors is ½ x ½ = ¼

Tt x Tt

The chance of a plant inheriting only dominant factors is ½ x ½ = ¼

Tt x Tt

The chance of a plant inheriting one dominant and one recessive

factor is ½

Tt x Tt or Tt x Tt (½ x ½) + (½ x ½) = ½

Hence the overall probability of dominant to recessive is a 3:1 ratio.

This is shown using a 2 by 2 table, called a Punnett Square:

Mendel’s factors are now called alleles and the physical

characteristics of an organism are carefully distinguished from its
alleles or genetic characteristics using the terms phenotype and
genotype.

Definitions of terms used in Genetics:

Phenotype
The characteristics of an organism
Genotype
The alleles of an organism

Homozygous
Having two identical alleles of a gene
Heterozygous
Having two different alleles of a gene

Locus
The particular position on homologous chromosomes of a gene

Dominant allele
An allele that has the same effect on the phenotype whether it is
present in the homozygous or heterozygous state
Recessive allele
An allele that only has an effect on the phenotype when present in
the homozygous state
Co-dominant alleles
Pairs of alleles that both affect the phenotype when present in a
heterozygote

Carrier
An individual that has one copy of a recessive allele that causes a
genetic disease in individuals that are homozygous for this allele
Test-cross
Testing a suspected heterozygous by crossing it with a known
homozygous recessive

Punnett Squares
It is possible using genetic crosses to determine the genotype and
phenotype of the offspring. The method used is called the Punnett
square which is a simple grid which allows the genotypes and
phenotypes to be determined methodically.

MONOHYBRID GENETIC CROSSES: GENETICS INVOLVING ONE

GENE

Example: Pea plants and the texture of their seed coats.

The characteristic of seed coat texture is controlled by one gene
with two alleles.
The seed coat can be either smooth or rough.
Smooth coat is dominant to rough coat.
One parent is homozygous dominant and the other is homozygous
recessive.

Step 1: Write an allele key using the upper case letter for the
dominant allele and the lower case latter for the recessive. (In this
example S and s although it is actually better to use easily
distinguished letters such as L and l, Q and q and so on.)
Step 2: Write out the parental phenotype cross.
Step 3: Write down the genotypes of the parents (diploid). In this
case they are both homozygous
Step 4: Write down the genotype of the gametes (haploid).
Step 5: In the Punnett square write down the possible fertilisations.
Remember these are just probabilities (chance fertilisations).
Step 6: Write out the genotypes and ratio of the offspring.
Step 7: Write out the phenotypic ratio.

1) S = Smooth alleles = Rough allele

2) Parental Phenotype: Smooth Seed Coat Rough

Seed Coat

3) Parental Genotype: SS ss
4) Gametes S s

5) s

S Ss

6) F1 Genotype All Ss (heterozygous)

7) F1 Phenotype All Smooth Seed Coats

Task
Determine the genotypes and phenotypes of the offspring of a
monohybrid cross using a Punnett grid.

1) In roses, red petal is dominant over white petal. Use the allele
key R for the red allele and r for the white allele.
a. Cross two heterozygous red roses
b. Describe the phenotype of the offspring.

2) In certain trees, smooth bark is dominant over wrinkled.

a. Cross two trees that are heterozygous for smooth bark.
b. If there are 100 offspring produced, how many will have wrinkled
bark.

The principles of inheritance discovered by Mendel in pea plants

also operate in other plants and animals. However, there are always
exceptions to the rule. Two important exceptions are demonstrated
by the inheritance of ABO blood groups in humans; co-dominance
and multiple alleles.

GENETIC CROSS INVOLVING CODOMINANT ALLELES

The ABO blood group system in humans is an example of co-
dominance. One gene determines the ABO blood group of a
person. The genotype IAIA gives blood type A and the genotype I BIB
gives blood type B. Neither I A nor IB is dominant over the other allele
and therefore a person with the genotype IAIB has the blood type AB.
There is a third allele of the ABO blood group gene, usually called i.
A person with the genotype ii has blood type O. The genotypes I Ai
and IBi give blood types A and B respectively, showing that i is
recessive to both IA and IB.

Parental Phenotype: Group A Group B

Parental Genotype: IAIA IBIB

Gametes IA IB

IA

IB IAIB

F1 Genotype IAIB

F1 Phenotype Blood Group AB

The flower colour of Mirabilis jalapa is also controlled by co-

dominant alleles. If a red-flowered plant is crossed with a white-
flowered plant, the offspring have pink flowers. It is important to
note that this does not show blending inheritance. When pink-
flowered plants are crossed they produce red, white and pink
offspring. This is because the alleles are segregated into gametes
before fertilization.

Key: CR = red CW = white CRCW = pink

Parental Phenotype Red Flowers x White Flowers

Parental Genotype CRCR CWCW

Gametes CR CW

CR

CW CRCW

F1 Genotype CRCW

F1 Phenotype Pink Flowers

F1 CROSS: Pink Flowers x Pink Flowers

F1 Genotype CRCW CR CW

Gametes CR CW CR CW

OVULES
CR CW
POLLEN CR
C C
R R
C C
R W

CWCW
CWCR
CW

F2 Phenotype Pink Flowers Red Flowers

White Flowers

GENETIC CROSS INVOLVING MULTIPLE ALLELES

When a gene has more than two alleles, the pattern of inheritance is
called multiple alleles. Genes with different alleles are an important
source of variation in every species. Without variation, natural
selection could not occur and a species could not evolve in response
to environmental change and might become extinct.
The ABO blood group system in humans is an example of multiple
alleles.

Parental Phenotype: Group A x Group B

Parental Genotype: IA i IB i
Gametes IA i IB i

IB i

IA I A IB IA i

i IB i ii

F1 Phenotypes AB A B O

Genes and Gender

The gender of a human is determined at the moment of fertilization,
by one chromosome carried in the sperm. This can either be an X or
a Y chromosome. Because X and Y determine gender, they are
called the sex chromosomes.
The X chromosome is large, with many genes on it that are essential
in both male and female development. The Y chromosome is much
smaller, with far fewer genes. There is one gene called TDF, is only
found on the Y chromosome. It initiates the development of male
features including testes and testosterone production. Females have
two X chromosomes and therefore do not have the TDF gene so
ovaries develop instead of testes and female sex hormones are
produced.
Females pass on one of their two X chromosomes in each egg cell,
so all offspring inherit an X chromosome from their mother. When
sperm are formed, half contain the X chromosome and half the Y
chromosome. Daughters inherit their father’s X chromosome and
sons inherit their father’s Y chromosome.

Parental Phenotype: Female x Male

Parental Genotype: XX XY

Gametes X Y

X XX XY

X XX XY

F1 Phenotypes Female Male

Ratio 1:1
Sex Linkage
If a gene is carried on the X chromosome, the pattern of inheritance
is different for males and females – there is sex linkage.
Sex linkage is the association of a characteristic with
gender, because the gene controlling the characteristic is
located on a sex chromosome.
Sex linked genes are almost always located on the X chromosome.
In humans haemophilia and red/green colour-blindness are
examples of sex-linked characteristics.

Haemophilia is a sex-linked recessive disease. The diagram

below shows how two parents, neither of whom have haemophilia,
could have a haemophiliac son.

Key: XH = X chromosome carrying the allele for normal blood

clotting
Xh = X chromosome carrying the allele for haemophilia

Parental Phenotypes: Normal mother x Normal father

(But she is a carrier*)

Parental Genotypes: XH Xh XH Y

Gametes: XH Y

XH XHXH XHY

Xh XhXH XhY
F1 Phenotypes: Normal daughter (homozygous) Carrier
daughter (heterozygous)
Normal son Haemophiliac son

Ratio: 1:1:1:1

N.B. Female carriers are heterozygous for X-linked recessive

alleles

* A carrier has a recessive allele of a gene but it does not affect the
phenotype because a dominant allele is also present

There is a 50% chance of a son being haemophiliac as half of the

eggs produced carry Xh. The chance of a daughter being
haemophiliac is 0%, so the overall chance of offspring being
haemophiliac is 25%.
None of the daughters are haemophiliac because they all inherited
the father’s X chromosome which carries the allele for normal blood
clotting, but there is a 50% chance of a daughter being a carrier.

SUMMARY OF THEORETICAL GENETICS

Two alleles of each gene are present
These two alleles can be the same (homozygous) or different
(heterozygous)
Just one allele is passed on to offspring in gametes
One allele is usually dominant over another allele

Rules for choosing symbols for alleles:

1. One dominant and one recessive allele of a gene
A letter is chosen. The dominant allele is shown with the upper case,
and the recessive allele with the lower case letter. E.g. A and a
2. Co-dominant alleles
A letter is chosen. This letter and a superscript letter represent each
allele. E.g. CR and CW
3. Sex-linked dominant and recessive alleles
The letter X is used to show the X chromosome. The letter Y is used
to show the Y chromosome. Each allele is shown superscript. E.g. X H
and Xh

Task
Determine the genotypic and phenotypic ratios of the offspring of
monohybrid crosses.

1. A rooster with grey feathers is mated with a hen of the same

phenotype. Among their offspring 15 chicks are grey, 6 are black
and 8 are white.

a. What is the simplest explanation for the inheritance of these

colours in chickens?

b. What offspring would you expect from the mating of a grey

rooster and a black hen?

2. The ability to taste the chemical PTC is determined by a single

gene in humans with the ability to taste given by the dominant
allele T and inability to taste by the recessive allele t. Suppose two
heterozygous tasters (Tt) have a large family.

a. Predict the proportion of their children who will be tasters and

non-tasters.
b. Use a Punnett square to illustrate how you make these
predictions. Is the likelihood that their first child will be a taster?

c. What is the likelihood that their fourth child will be a taster?

d. What is the likelihood that the first three children of this couple
will be non tasters?

3. In dogs, wire hair is due to a dominant gene (W) and smooth hair
is due to its recessive allele (w).

a. If a homozygous wire-haired dog is mated with a smooth-haired

dog, what type of offspring could be produced?

b. What type of offspring could be produced in the F2?

c. Two wire-haired dogs are mated. Among the offspring of their first
litter is a smooth-haired pup. If these two wire-haired dogs mate
again, what are the chances that they will produce another smooth-
haired pup? What are the chances that the pup will be wire-haired?

d. A wire-haired male is mated with a smooth-haired female. The

mother of the wire-haired male was smooth-haired. What are the
phenotypes and genotypes of the pups they could produce?

Pedigree Charts
Pedigree charts can be used to deduce whether a characteristic is
caused by a dominant or a recessive allele and whether it is sex-
linked or not. They can also be used to deduce the genotypes of
individuals.
Using Pedigree Charts
Squares represent males and circles represent females. Shaded
symbols represent individuals affected by the disease and unshaded
symbols represent unaffected individuals.

Task
Deduce the genotypes and phenotypes of individuals in pedigree
charts

Figure I

1. How many normal males are represented in Figure I?

2. How many normal females?
3. How many children did the grandparents have?
4. How many affected individuals are present?

Pedigree Analysis
Individuals who lack an enzyme needed to form the skin pigment
melanin are called albinos. Normal skin pigmentation is dominant.
Use N to represent the gene for normal and nn to represent the
genotype for albinism. If you cannot determine if the dominant trait
is heterozygous or homozygous, use N_
Refer to Figure II and identify the genotype of each individual. Draw
a chart listing the individuals and their genotypes.

Figure II - ALBINISM PEDIGREE

5. How many individuals had the genotype Nn ? How many were

N_?
 6. Using a punnet square predict the probability of the
grandparents having albino children.

The following pedigree demonstrates the ability to taste PTC paper.

The ability to taste is a dominant trait and is represented by the
letter T. Non-tasters are represented by tt and uncertain genotypes
as T_
Refer to Figure III and identify the genotypes as you did in the
previous pedigree.

Figure III - PTC TASTING PEDIGREE

7. How many individuals are heterozygous? How many are

homozygous?
8. What is the probability of grandparents 3 and 4 having non-
taster offspring?

Describe the following pedigree chart in as much detail as possible:

Test crosses
If there are two alleles of a gene, there are three possible
genotypes.
For example:

1. TT (homozygous dominant)
2. tt (homozygous recessive)

3. Tt (heterozygous)

If an organism has a characteristic caused by the

dominant allele, it is not possible to know if it is
homozygous or heterozygous simply by looking at it.
Using the example of pea plants; if the plant is tall you
have no way of knowing if it is TT or Tt. One way to find
out is to do a test cross.

In a test cross an individual that might be heterozygous is crossed

with one or more individuals that are homozygous recessive. If a
small number of offspring are obtained all of which show the
phenotype caused by the dominant allele, the cross must be
repeated until there is a large enough number of offspring to be
confident that no recessive allele is present.

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GENETIC ENGINEERING AND BIOTECHNOLOGY

The Human Genome Project

The Human Genome Project (HGP) was an international cooperative
venture between many laboratories in many countries. The HGP
achieved the goal of identifying the base sequence of the human
genome; the entire DNA in the human cell which consists of
approximately 25,000 genes. The HGP has also provided information
about the role of junk DNA, i.e. sections of DNA that are not
transcribed.

Task
Outline three outcomes of the sequencing of the complete human
genome

Easier identification of genetic diseases

Production of new drugs based on DNA base sequences
Information about the evolution and migration of humans

The Polymerase Chain Reaction (PCR)

This is a technique that can be used to produce many copies of any
given quantity of DNA. This is useful when very small fragments of
DNA are found in a sample and larger amounts are needed for
analysis. DNA from very small samples of semen, blood or even
fossils can be amplified using PCR.
The first stage in PCR is denaturing of the DNA using high
temperatures, to separate the two strands. Then DNA polymerase
from a bacterium, Thermophilus aquaticus, which can withstand
these high temperatures, is added. Free nucleotides are paired and
new strands are produced.

Gel Electrophoresis
This is a method of separating mixtures of proteins, DNA or other
molecules that carry a charge. The mixture is placed on a thin sheet
of gel, which acts like a molecular sieve. An electric field is applied
to the gel by attaching electrodes to each end. Depending on
whether the molecules are positively or negatively charged they
move towards one of the electrodes or the other. The rate of
movement depends on the size and charge of the molecules,
smaller and highly charged molecules move faster than larger or
less charged ones. The molecules, separated according to size,
create patterns or bands on the gel. These patterns are very
unlikely to be the same for any two individuals. Analysis of the
bands of DNA is a technique called DNA profiling.
DNA Profiling
Humans and other organisms have short sequences of bases that
are repeated many times called satellite DNA. This satellite DNA
varies greatly between individuals in the number of repeats. If the
DNA is copied using PCR and then cut up into short fragments using
restriction enzymes, the lengths of the fragments varies greatly
between individuals. Such variations exist throughout the genome
and can be used to define a unique genetic fingerprint.
Genetic fingerprints are used in forensic investigations, paternity
cases and in evolutionary studies.

Task
Analyse DNA profiles to draw conclusions about paternity or forensic
investigations:
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DNA/95/i37

Genetic Engineering
The Genetic code is universal, so genes can be transferred from one
organism to another even if they are members of different species.
A gene codes for a polypeptide with the same amino acid sequence
whether it is in a human cell, a bacterium or any other cell.
Gene transfer technology takes advantage of the universality of the
genetic code so that desirable qualities found in entirely different
donor species can be transferred to a different host species.
The process of transferring genes is called genetic modification.
Genetic modification of bacteria to produce human insulin
By the 1980’s, biotechnology
companies found a way to
mass produce human insulin
using genetically modified
bacteria. The diagram shows
the procedure for producing
human insulin using
recombinant DNA technology.
The gene for the human
hormone insulin is introduced
into a plasmid which is then
taken up by the bacterium E.
coli. The bacterium is then able
to produce human insulin.

DNA is cut using restriction

enzymes. Genes inserted and
‘glued’ into the plasmid using
DNA ligase.

Before the discovery of gene

transfer technology, patients
with diabetes had to inject
themselves with insulin
obtained from the pancreas of
pigs. Now they can use human
insulin, manufactured by
genetic engineering.
Organisms that have had genes transferred to them are
called genetically modified organisms (GMO) or transgenic
organisms.

Task
1. Describe two examples of the current uses of genetically modified
crops or animals.
2. Discuss the potential benefits and possible harmful effects of one
example of genetic modification.

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crops-animal-food-and-beyond?
utm_source=facebook&utm_medium=social&utm_campaign=
feedyourmind2020Genetically
Modified Maize
Contains a gene that codes for a toxin that kills parasitic pests

POTENTIAL BENEFITS POSSIBLE HARMFUL EFFECTS

Less pest damage and therefore Humans or farm animals that eat
higher crop yields to help reduce the GM maize might be harmed
food shortages by the bacterial DNA in it, or by
the toxin
Less land needed for crop Insects that are not pests could
production, so some could be killed. Maize pollen containing
become areas for wildlife the toxin is blown into wild plants
conservation growing near the maize. Insects
feeding on the wild pants, are
therefore affected even if they
do not damage crops
Less use of insecticide sprays, Populations of wild plants might
which are expensive and can be be changed. Cross pollination will
harmful to farm workers and to spread the modified gene into
wildlife some wild plants but not others
giving the new plants an
advantage in the struggle for
survival
Cloning
Cloning is producing identical copies of genes, cells or organisms.
The products of cloning are called a clone.
Clone: A group of genetically identical organisms or a group
of cells derived from a single parent cell.

Cloning can happen naturally – asexual reproduction produces

genetically identical offspring and identical twins are also clones.

Reproductive Cloning
Cloning is very useful if an organism has a desirable combination of
characteristics and more organisms with the same characteristics
are wanted. This is called reproductive cloning.
It is also possible to produce clones artificially using eggs fertilized
in vitro; the cells from the multicellular embryo are separated and
implanted into surrogate mothers.
Another method of cloning involves the use of non-reproductive
cells. The first mammal cloned from adult cells was Dolly the sheep.

Adult Cell Cloning:

SHEEP A SHEEP B

Adult udder cell Mature egg

Nucleus removed Nucleus removed

Individual nucleus Empty egg

 Mild electric shock

Nucleus from Sheep A fuses with empty egg

from Sheep B and starts to divide to form an
embryo

The cloned embryo is implanted into the uterus of

Sheep C

Lamb is born that is

a clone of Sheep A

[Link]

One big hope for adult cell cloning is that animals which have been
genetically engineered to produce useful proteins in their milk can
be cloned. This would give us a good way of producing large
numbers of cloned, medically useful animals.
This technique could also be used to help save animals from
extinction, or even bring back species of animals which died out
years ago. The technique could be used to clone pets or prized
animals so that they continue even after the original has died.
There are some disadvantages to this exciting science as well. Many
people fear that the technique could lead to the cloning of human
babies.
One big problem is that modern cloning produces lots of plants or
animals with identical genes. In other words, cloning reduces variety
in a population. This means the population is less able to survive
any changes in their environment which might happen in the future.
That’s because if one of them does not contain a useful mutation,
none of them will.
In a more natural population, at least one or two individuals can
usually survive change. They go on to reproduce and restock. This
could be a problem in the future for cloned crop plants, or for cloned
animals.
Advantages
Production of mechanically useful proteins
Could be used to save animals from extinction
Clone pets/prized animals

Disadvantages
Reduces variety in a population
Original species could become extinct
Ethics of human cloning

Therapeutic Cloning
Sometimes cloning is used to produce tissues needed to treat a
patient. This is called therapeutic cloning.
Therapeutic cloning is less controversial. It could involve production
of embryonic stem cells for disease treatment. This involves
transplanting the nucleus from a patient’s cell into a denucleated
unfertilized egg cell which could then divide to produce cells and
tissues that could be used in medical treatment.

Discuss the ethical issues of therapeutic cloning in humans