KNOWLEDGE AREA:

Life Processes in Plants and

Animals

TOPIC 2.2: Genetic and

Inheritance

Mutations
Mutations
Causes
Where do mutations occur?
Frequency of Gene Mutations
Gene Mutations and Chromosomal
Aberrations
Effects of Mutations
Genetic Disorders caused by
Mutations
Useful Mutations and its Link with
Natural Selection.
Mutations are sudden, random changes in
the genetic code of an organism which can be
inherited.
 The changes occur during DNA replication when a
copy of the DNA is made.
 This means that the copy is not identical
to the original DNA.
 The base pairs may be different.
 Thus changing the structure of the gene.
 Therefore the genetic code carried by the gene is
now different.
TERM:

Mutations
DEFINITION: USE IN SENTENCE:

are sudden, random Mutations can result in

changes in the genetic code genetic diseases like
of an organism which can haemophilia.
be inherited.
Mutations are caused by…
 Environmental agents like X-rays, cosmic rays, uv
radiation and certain chemicals.
 But we must remember that different people
will be affected differently by the exposure to
these environmental agents.
 Therefore not everyone exposed to the
environmental agents will suffer a mutation.
 Mutations can occur in both the somatic and sex
cells.
 In the somatic cells they will result in diseases
like cancer.
 In the sex cells or gametes they will be passed
down from generation to generation.
 This means that they can be inherited.
 Mutations occur fairly frequently.
 This is because of the large number nucleotides
that make up the DNA.
 The human genome has 6 billion nucleotides,
children can be distinguished from their parents
by about 50 single nucleotide mutations.
 We will
now look at gene mutations and
chromosomal aberrations.

Gene Mutations…
 When mutations affect a single or a few base
pairs in one gene, we call these mutations a
gene mutation.
 Gene mutation refers to a change in the structure
of the gene.
 These changes occur because of a change in the
DNA sequence.
 When we talk about gene mutation we speak
about changes involving genes only.
 There are 2 types of gene mutations.
 These are…
1. Point Mutations
2. Frame-shift Mutations

Now lets look at each type of mutation.

1. Point Mutation…

 Point mutation is also called a substitution or

base substitution.
 In this type of mutation a single base is
changed.
 This means that one base pair is replaced by
another base pair.
 The change in the base pair results in a change
in one base of the mRNA.
 This in turn results in the change in the codon
of the mRNA.
 The mRNA now codes for a different amino acid.
 The formation of a new amino acid means that
the protein that is formed is slightly different.
 Therefore it is possible that the new protein may
function differently to the original protein.
 This can lead to altered characteristics, which can
lead to genetic disorders.
 One example of a genetic disorder caused by
point mutation is sickle cell anemia.
 Remember during a point mutation one base is
exchanged for another .
 Therefore everything before and after the
mutation remains the same.
 The length of the DNA does not change.
 Lets look at the example
along side.
 This diagram shows the
DNA and the
corresponding mRNA.
 So if we look at the first
6 base pairs on the DNA
it is TACTGG.
 This DNA acts as a
template for the
formation of mRNA. Point Mutation
 It results in the
formation of AUGACC.
 Which in turn allows for
the amino acid
sequence met, thr
and his.
 Now if a point mutation
occurs, the 4th base pair
is changed from T to A,
then the mRNA and
amino acid sequence
changes.
 The point mutation Point Mutation
changes the DNA to
TACAGG.
 Notice that this is the
only change.
 Look at all the base
pairs before and after
the change.
 They are exactly the
same!!
 But the change in the
base pair changes the
mRNA, which is now Point Mutation
AUGUCC.
 The slightly different
mRNA codes for a
slightly different
amino acid sequence.
 Thr is changed to Ser.
 But notice that the
rest of the sequence
is the same as the Point Mutation
original amino acid
sequence.
 This is a major
distinguishing factor
about the point
mutation.
 That is only change
is at the point of the
mutation.
 The rest of the DNA,
mRNA and amino Point Mutation
acid sequence stays
the same.
2. Frame-shift Mutation…

 In a frame shift mutation a single base pair may

be inserted or deleted from the DNA molecule.
 This insertion or deletion affects the triplet
reading frame.
 Therefore from the point of change, the DNA
will produce a mRNA that is different from the
original mRNA.
 This difference is mainly because the codons
are now read in a new frame of 3, this means
that there is a new reading frame.
 This would result in a number of new amino acids
or the sequence of the amino acids will be
completely different.
 Either way a new protein is formed.
 The new protein will not function as the original
protein.
 This can lead to altered characteristics.
Now lets look at an
example.
 Look at the amino
acid tyrosine in the
original DNA.
 The DNA is ATA and
the mRNA is UAU.
 Now look at the
altered DNA there is
an insertion of a Frame shift Mutation
single base (A) at that
point.
 Now look at the rest
of the altered DNA
and mRNA strand.
 Can you see that from
this point onwards
they are different
from the original?
 Which in turn resulted
in completely Frame shift mutation
different amino acids
in the polypeptide
chain.
 Remember when a new base was inserted the
length of the gene was changed.
 Therefore the reading frame changed.
 Which resulted in a number of new amino acids
or the amino acids could have a completely new
sequence.
 Therefore a new protein is formed.
 This would lead to altered characteristics.
Chromosomal Aberrations…

 Chromosomal aberrations refers to changes in

the number of chromosomes or in the normal
structure of the chromosomes.
 It usually occurs during mitosis and meiosis.
 During mitosis or meiosis parts of the
chromosomes maybe broken off and lost.
 Sometimes the broken rejoin incorrectly.
 They can rejoin backwards or they even rejoin to
the wrong chromosome.
 Chromosomal aberrations usually takes place
because mistakes that occur in the process of
crossing over.
 These mistakes takes place in prophase I of
meiosis.
The mistakes may be as follows:
1. Deletions-a section of a chromatid is lost.
2. Duplication- a section of the chromatid is
doubled.
3. Inversions- a section of the chromatid gets
turned.
4. Translocation-here a part of the chromatid may
break off and join a non-homologous
chromosome.
 Some chromosomal mutations occur because
the chromosomes do not separate properly
during meiosis I.
 In this case both chromosomes move to the
one pole.
 This is called non-disjunction, which
was looked at earlier.
The diagram alongside
shows these
mutations.

Chromosomal Aberrations
TERM:

Gene mutation
DEFINITION: USE IN SENTENCE:

refers to a change in the A point mutation is an

structure of the gene. example of a gene
mutation.
TERM:

Point mutation
DEFINITION: USE IN SENTENCE:

a mutation affecting only A point mutation can result

one or very few in a change in the
nucleotides in a gene sequence of the amino
sequence acid.
TERM:

Frame-shift Mutation
DEFINITION: USE IN SENTENCE:

This is a genetic mutation A frame shift mutation

caused by a deletion or results in more serious
insertion in a DNA changes to the DNA
sequence that shifts the sequence.
way the sequence is read.
TERM:

Chromosomal aberrations
DEFINITION: USE IN SENTENCE:

refers to changes in the Non-disjunction results in

number of chromosomes chromosomal aberrations.
or in the normal structure
of the chromosomes.
 Mutations can be harmless or harmful.
 There are 2 types of harmless mutations.
These are…
1. Neutral mutations: the structure and
functioning of the organism is not effected.
2. Advantageous mutations: these mutations
benefit the organisms. Therefore they are
passed on from parent to offspring. This
advantageous gene wipes out all the other
alleles that control that characteristic in the
population. These mutations are called fixed
mutations.
 Harmful mutations are also called lethal
mutations.
 The mutated organism dies.
 This ensures that the harmful characteristics are

not passed on to the next generation.

TERM:

Neutral mutations
DEFINITION: USE IN SENTENCE:

the structure and This type of mutation has

functioning of the organism no effect on the organism.
is not effected.
TERM:

Advantageous mutations
DEFINITION: USE IN SENTENCE:

these mutations benefit Advantageous mutations

the organisms. are passed on from parent
to offspring.
 Some of the genetic disorders caused by
mutations are…
1. Down syndrome
2. Sickle cell anemia
3. Haemophilia
4. Albinism

We shall look at some of these disorders.

1. Down syndrome:

 Down syndrome is an example of

chromosomal aberration and not a gene
mutation.
 This is so because it is caused by non-
disjunction of chromosome 21.

 The symptoms and screening was discussed

during meiosis. Please refer to this.
2. Sickle Cell Anaemia:

Causes…

 This disease is caused

by a mutant allele on
chromosome 11.
 It results in the red
blood cell having a
sickle shape.
 These abnormal cells
block the small blood
vessels.
Symptoms…
 The sickle shape red blood cell causes blockages
in the blood vessels.
 This leads to reduced blood supply.
 Therefore the organs will receive less oxygen and
nutrients.
This may cause…
1. Damage to organs such as spleen
2. Stroke because of damage to parts of the brain.
3. Anaemia which causes fatigue or tiredness.
4. Pain
Treatment…

 Blood transfusions
 Drugs to alleviate pain

 The bone marrow transplant is the

only cure at the moment.
 But thisoperation is very dangerous,
especially in adults because the immune system
may reject the transplant.
Haemophilia

Was discussed under sex linked diseases. Please go

through this again!!!
Albinism:

Albinism refers to a group of genetic disorders

which are characterized by a lack of the pigment
melanin.
 Oculo-cutaneous albinism is the most common type
of albinism.
 It affects the eyes(oculo) and skin (cutaneous).

Causes…
 Ocular albinism is caused by a mutation of a gene on
the x-chromosome.
 Oculo-cutaneous albinism is caused by a mutation of
the P gene on chromosome number 15.

Symptoms…

 Patients who suffer from oculo-cutaneous albinism

have poor vision and light skin.
 The light skin sunburns easily.
 This can lead to skin cancer.
 Children with albinism are slower walk and crawl
because of visual problems but their intelligence is
normal.
Treatment…

 Unfortunately there is no known cure.

 Sun protection creams and protective clothes can
prevent sun burns and skin cancer.
 Unfortunately people that suffer from albinism
are often stigmatized by the community.
 This can be prevented by education.
Screening…

 DNA testing can identify the P gene mutation.

 In cases where both families are carriers of the
disease, prenatal diagnosis should be done.
TERM:

Albinism
DEFINITION: USE IN SENTENCE:

Albinism refers to a group People who suffer from

of genetic disorders which albinism do not have the
are characterized by a lack pigment melanin.
of the pigment melanin.
 Variation ensures that the genotypes or genetic
codes of individuals are different from each other
even if they belong to the same family.
Variation is brought about because…
1. When gametes are produced by meiosis they
are different from each other.
2. Of chance fertilization of eggs by the sperm.
 Mutations also brings about new genotypes.
Therefore we can say that the above 3 points
brings about variation.
 These 3 points are: different gametes, chance
fertilization and mutations.
 Therefore we find the offspring of a species will
show a great deal of variation.
 This increases the chances of the survival of the
species.
 The organisms that are best adapted to live
under certain conditions enable to compete
successfully for resources and to protect
themselves in a particular environment.
 These advantageous adaptations enable them to
survive.
 This is called natural selection.
 Natural selection was put forward by Charles Darwin.
 His idea of natural selection suggests that nature only
selects those organisms that are best suited to the
environment to live and reproduce.
 Natural selection occurs from one generation to the
next, this means that favorable characteristics are
passed on from parent to offspring.
 Therefore we will find a continual gradual change in a
population which will eventually lead to the
formation of a new species.

 This is called speciation.

TERM:

Natural Selection
DEFINITION: USE IN SENTENCE:

Ensures that organisms Since natural selection

are best adapted to live occurs from generation to
under certain conditions generation it ensures that
are able to compete an entire species will
successfully for resources gradually change to survive
and to protect themselves under certain conditions.
in a particular
environment.
TERM:

Speciation
DEFINITION: USE IN SENTENCES:

The process by which new Speciation will lead to the

species are produced formation of new species.
through evolution, from
existing species.
 Mutations: are sudden, random changes in the
genetic code of an organism which can be
inherited.
 Point mutation: is a mutation affecting only one
or very few nucleotides in a gene sequence.
 Frame-shift Mutation: this is a genetic mutation
caused by a deletion or insertion in a DNA
sequence that shifts the way the sequence is read.
 Neutral mutations: the structure and functioning
of the organism is not effected.
 Advantageous mutations: these mutations
benefit the organisms.
 Albinism: refers to a group of genetic disorders
which are characterized by a lack of the pigment
melanin.
 Natural Selection: ensures that organisms are

best adapted to live under certain conditions, to

compete successfully for resources and to protect
themselves in a particular environment.
 Speciation: the process by which new species are

produced through evolution, from existing

species.
1. A genetic disorder characterized by the absence
of a blood clotting factor is called…
A. Albinism
B. Sickle cell anaemia
C. Haemophilia
D. Down syndrome
2. The genetic disorder that is caused by a mutant
allele on chromosome number 11 is called…
A. Albinism
B. Sickle cell anaemia
C. Haemophilia
D. Down syndrome
3. The genetic disorder that results in poor vision
and light skin is called…
A. Albinism
B. Sickle cell anaemia
C. Haemophilia
D. Down syndrome
4. Amniocentesis is a screening method for the
genetic disorder…
A. Albinism
B. Sickle cell anaemia
C. Haemophilia
D. Down syndrome
5. The type of mutation that causes the length of
the DNA to increase is…
A. Point mutation
B. Frame shift mutation
C. Chromosomal aberrations
D. None of the above
6. The type of mutation that is brought about by a
substitution is…
A. Point mutation
B. Frame shift mutation
C. Chromosomal aberrations
D. None of the above
7. When changes in the normal structure of
chromosomes occur this is called…
A. Point mutation
B. Frame shift mutation
C. Chromosomal aberrations
D. None of the above
8. The type of gene mutation in which adenine is
lost/deleted from a DNA base triplet is…
A. Frame shift mutation
B. Point mutation
C. Both A and B
D. Neither A nor B
9. The type of gene mutation where only one
nitrogenous base is replaced with another in the
mRNA template is…
A. Frame shift mutation
B. Point mutation
C. Both A and B
D. Neither A nor B
10. The mutation that has no effect on the structure
and functioning of the organism which posses
them is called…
A. Harmful mutations
B. Lethal mutations
C. Neutral mutations
D. Fixed mutations
11. An example of an advantageous mutation is…
A. Harmful mutations
B. Lethal mutations
C. Neutral mutations
D. Fixed mutations
12. The types of harmless mutations are…
A. lethal mutations
B. Neutral mutations
C. Fixed mutations
D. B and C
13. Lethal mutations are also called…
A. Harmful mutations
B. Advantageous mutations
C. Neutral mutations
D. Fixed mutations
14. The type of chromosomal aberration where a
part of a chromosome is left out is…
A. Deletion
B. Insertion
C. Inversion
D. Translocation
15. The type of chromosomal aberration where a
part of a chromatid breaks off and attaches to its
sister chromatid is …
A. Deletion
B. Insertion
C. Inversion
D. Translocation
16. The type of chromosomal aberration where a
part of the chromosome breaks off and
reattaches backwards is…
A. Deletion
B. Insertion
C. Inversion
D. Translocation
17. The type of chromosomal aberration where a
part of a chromosome breaks off and is added to
a different chromosome is…
A. Deletion
B. Insertion
C. Inversion
D. Translocation
18. The alteration of a gene by UV radiation is
called…
A. Replication
B. Mutation
C. Protein synthesis
D. Mitosis
19. The genetic disorder that is sex-linked is…
A. Colour blindness
B. Down syndrome
C. Both A and B
D. Neither A nor B
20. The disease caused by uncontrolled cell division
is…
A. Cancer
B. Sickle cell anaemia
C. Haemophilia
D. None of the above
1. C 11. D
2. B 12. D
3. A 13. A
4. D 14. A
5. B 15. B
6. A 16. C
7. C 17. D
8. A 18. B
9. B 19. A
10. C 20. A