4.1.6.

Mutation
A mutation can be caused by several factors but is divided into two
parts. If the agent that caused the mutation cannot be identified then
it is known as a spontaneous mutation. If the mutation can be
identified then it is called an induced mutation.
Substances that cause mutations are radiation,
x-ray,
ultra-violet radiation,
nuclear radiation and
 certain chemical substances.
• These agents can also be called mutagenic agents or mutagens.
 Types of mutation
1. Point mutations
A point mutation is a change in a single nucleotide in DNA. This type of
mutation is usually less serious than a chromosomal alteration. An example of
a point mutation is a mutation that changes the codon UUU to the codon
UCU.
There are several types of point mutation, in which one
of the bases in the DNA sequence of a gene is
altered, usually by being copied wrongly when the DNA
replicates. The different point mutations are:
I. Substitution
I. Addition and Deletions
 In a deletion mutation, a base is 'missed out'
during replication,
 in addition mutation, an extra base is added
 Both deletion and additions are more significant
mutations than substitutions. The reason for this is
that they do not just alter the triplet in which the
mutation occurs. Because there is one fewer or
one extra base, the whole sequence after the
point of the mutation is altered. We say that
there has been a frameshift and these are
frameshift mutations.
 A totally different mRNA is produced (if one is
produced at all) and a non functional protein or no
protein at all.
 Chromosomal mutation
 A chromosomal mutation is a mutation involving a long
segment of DNA.
 Chromosomal mutation occurs when there is any change in the
arrangement or structure of the chromosomes.
 Chromosomal mutation occur most often during meiosis at
crossing over in prophase I.
 They are much bigger events than point mutations and usually
result in the death of a cell. They may also affect the whole
organism. For example, if essential parts of the DNA are affected
by chromosomal mutations, a foetus may be aborted. There are
different types of chromosome mutations
A. Duplication,
B. Deletion,
C. Inversion and
D. Translocation
Types of Chromosomal Mutations
1.Chromosomal Mutations I
 inversion,
 deletion,
 duplication/amplification or
 translocation
2.Chromosomal Mutations II
 aneuploidy and
 polyploidy.
 1.Chromosomal mutations I
 Inversion
Inversion chromosomal mutation is a kind of chromosomal mutations I
and its segments are reversed from end to end. A piece of the
chromosome is removed then reattached but in the opposite direction than
it was originally. When this does not include the center or the centromere of
the chromosome, it is called paracentric inversion. When the inversion
does include the centromere, it is pericentric.
 Deletion
Also known as partial monosomies, these occur when a piece of a
chromosome accidentally gets removed or deleted. There can be cases
with one piece deleted at the end (terminal deletion), two deletions - one
deleted within the chromosome, and one on the end (interstitial
deletion).
Microdeletions also occur when the deletions in the chromosomes are too
small to be detected.
 Duplication/ Amplifications
As the name implies, an extra copy of a segment or the entire
chromosome is present in the nucleus. These are also known as partial
trisomies. Often an organism that usually has two copies of a chromosome will
have three in the case of duplication. This can happen anywhere along the
chromosome whether in the middle or on the ends.
 Translocation
This happens when a segment of a chromosome breaks off and then
relocates to a completely different chromosome. This creates fusion
chromosomes as one type of chromosome fuses with another.
 Reciprocal translocation occurs when pieces of chromosomes "swap"
places.
 Robertsonian translocation occurs when a segment of a chromosome is
attached to another chromosome, causing an elongation of it. These can be
balanced or unbalanced, where the chromosome is fully functional with no
missing genetic information (balanced) or with important missing pieces and
cannot function as normal (unbalanced).
 The translocation of chromosome 21 onto the 14th chromosome causes the
common genetic mutation of down syndrome.
 Chromosomal Mutations II
 Aneuploidy
This mutation either causes the loss or addition of a
chromosome by the contortion of the chromosome set.
Nondisjunction during meiosis or mitosis usually results in
this mutation.
It leads to genetic disorders such as Down syndrome,
Turner syndrome, and Klinefelter syndrome.
 Polyploidy
This mutation causes the creation of two sets of genomes
within an organism. It is not usually common naturally
however, it can be observed in some plants. It usually causes
effects like giantism and the reduction of fertility.
 Genetic Disorder
chromosomal disorders
1.Trisomy 21: Down Syndrome

Down syndrome is a genetic disorder caused by the presence of

an extra copy of chromosome 21. It is typically characterized
by intellectual disability, distinctive facial features, and
certain medical conditions such as heart defects and
gastrointestinal issues. Individuals with Down syndrome often have
varying degrees of developmental delays, but with proper support
and education, they can lead fulfilling lives.
2.Trisomy 18: Edwards syndrome,

Trisomy 18, also known as Edwards syndrome, is a genetic disorder

caused by the presence of an extra copy of chromosome 18. It is
associated with multiple congenital anomalies and severe
developmental delays. Babies born with Trisomy 18 often have low
birth weight, heart defects, clenched fists with overlapping fingers,
and distinctive facial features. Unfortunately, many infants with
Trisomy 18 have significant health complications and a reduced
lifespan, with the majority not surviving past the first year of life.
3.Trisomy 13 : Patau syndrome,
Trisomy 13, also known as Patau syndrome, is a genetic
disorder characterized by the presence of an extra copy of
chromosome 13. This condition results in severe
developmental abnormalities and multiple congenital
anomalies. Babies born with Trisomy 13 often have
structural malformations such as cleft lip and palate, extra
fingers or toes, heart defects, and brain
abnormalities. They may also experience feeding difficulties
and intellectual disabilities. Unfortunately, many infants with
Trisomy 13 have significant health complications and a
reduced lifespan, with the majority not surviving past the first
year of life.
 4.Klinefelter Syndrome
 XXY syndrome, also known as Klinefelter syndrome,
is a chromosomal disorder that affects males.
 It occurs when there is an extra X chromosome,
resulting in a total of XXY instead of the typical XY.
 This condition can lead to a variety of physical and
developmental differences, including infertility,
reduced testosterone levels, gynecomastia
(enlarged breasts), and learning disabilities.
 Treatment may involve hormone therapy to address
some of the symptoms and support services to help
manage any developmental challenges
 5.Turner syndrome
Turner syndrome is a genetic condition that affects
females and occurs when one of the two X
chromosomes is missing or partially missing.
 It leads to a range of developmental and medical
problems, including short stature, infertility, heart
defects, and certain learning disabilities.
Treatment often involves hormone therapy to promote
growth and development.
 6. Triple X Syndrome
 Triple X syndrome, also known as trisomy X or 47,
XXX, is a chromosomal disorder that affects females.
 It occurs when females have an extra X chromosome,
resulting in a total of three X chromosomes instead of the
typical two (XX).
 Most individuals with triple X syndrome do not have
severe physical abnormalities, but they may experience
mild developmental delays, such as speech and
language delays or learning disabilities.
 Some individuals may also have taller stature than
average. Treatment and support services, such as speech
therapy or educational assistance, can help manage any
associated challenges.
 XYY Syndrome(JACOB’S SYNDROME )

 Occurs in male when they have an extra y

chromosome
 Characterized by
 tall status
 speech and language delay
 Learning difficulties
 Summary Table of Mutation Types
Mutation Type Description Example/Impact

Point Mutation Single base change Sickle-cell anaemia

Chromosomal Deletion Loss of a segment Developmental disorders

Duplication Extra chromosome segment Partial trisomies

Inversion Reversal of a chromosome segment Genetic instability

Segment moves to another

Translocation Down Syndrome (Robertsonian)
chromosome

Aneuploidy Gain/loss of a chromosome Trisomy 21

Additional chromosome sets

Polyploidy Gigantism in plants
(common in plants)
 Genetic Drift
Genetic drift is a random change in allele frequencies in a population
due to chance events. It occurs more strongly in small populations and
can lead to the loss or fixation of alleles over time.
 It decreases genetic variation.
 It is more significant in small populations.
 Types of genetic drift include the bottleneck effect (when a
population is drastically reduced in size) and the founder effect
(when a small group of individuals starts a new population).
 Allelic and Genotypic Frequencies
 Allelic Frequency: The proportion of different alleles in a
population.
 Genotypic Frequency: The proportion of different genotypes in a
population.
 Formula for Allelic Frequencies:
 The total frequency of alleles AA (dominant) and aa (recessive)
in the population is represented by: p + q = 1
 Where:
◦ pp is the frequency of allele AA,
◦ qq is the frequency of allele aa.
 Formula for Genotypic Frequencies:
 Using Hardy-Weinberg equilibrium, the frequencies of the
genotypes are: p2+2pq+q2=1p^2 + 2pq + q^2 = 1 Where:
◦ p2p^2 represents the frequency of homozygous dominant genotype
AAAA,
◦ 2pq2pq represents the frequency of heterozygous genotype AaAa,
◦ q2q^2 represents the frequency of homozygous recessive genotype aaaa.
Random Mating (Assumption of Hardy-Weinberg Equilibrium)
Random Mating:
 In random mating, individuals pair without any preference for
specific genotypes. This ensures that allele frequencies remain
constant, assuming other evolutionary forces (like mutation,
selection, and drift) are not acting.
Hardy-Weinberg Assumptions:
 Random mating
 No natural selection
 No genetic drift (large population size)
 No migration (no gene flow)
 No mutation
Hardy-Weinberg equilibrium describes a population that is not
evolving. Allele frequencies remain constant over generations under
specific conditions.
Hardy-Weinberg Equilibrium Equation:
 p2+2pq+q2=1p^2 + 2pq + q^2 = 1
 Where:
 p2p^2 = frequency of homozygous dominant genotype (AA),
 2pq2pq = frequency of heterozygous genotype (Aa),
 q2q^2 = frequency of homozygous recessive genotype (aa).
If the population is in Hardy-Weinberg equilibrium, the allele frequencies do
not change, and the distribution of genotypes remains the same.
Example 1: Calculating Allelic and Genotypic Frequencies
 Problem:
 In a population of 500 individuals, you observe the following genotypic counts for
a gene with two alleles (A and a):
 150 individuals are homozygous dominant (AA).
 200 individuals are heterozygous (Aa).
 150 individuals are homozygous recessive (aa).
Calculate the allelic frequencies (p and q) and genotypic
frequencies.
Solution:
 Total number of alleles:
Since there are 500 individuals and each individual carries 2 alleles:
Total alleles=500×2=1000 .
 Alleles from AA (Homozygous dominant):
Homozygous dominant individuals contribute 2 alleles of A:
150×2=300 alleles
 Alleles from Aa (Heterozygous):
Heterozygous individuals contribute 1 allele of A and 1 allele of a:
200×1=200 alleles of A.
200×1=200 alleles of a..
 Alleles from aa (Homozygous recessive):
Homozygous recessive individuals contribute 2 alleles of a:
 150×2=300 alleles
 Total alleles of A and a:
◦ Alleles of A: 300 (from AA) + 200 (from Aa) = 500
◦ Alleles of a: 200 (from Aa) + 300 (from aa) = 500
 Allelic Frequencies:
p=500/1000=0.5
q=500/1000=0.5
 Genotypic Frequencies:
◦ Homozygous dominant (AA) = p2p^2 = 0.52=0.250.5^2 = 0.25
(25% of the population is AA)
◦ Heterozygous (Aa) = 2pq2pq = 2×0.5×0.5=0.52 \times 0.5 \times
0.5 = 0.5 (50% of the population is Aa)
◦ Homozygous recessive (aa) = q2q^2 = 0.52=0.250.5^2 = 0.25
(25% of the population is aa)
 Bottleneck Effect
A form of genetic drift caused by a sudden, drastic reduction
in population size due to natural disasters or other
catastrophic events.
Impact:
◦ Reduces genetic diversity.
◦ Surviving population may not represent original allele frequencies.
 Outcome:
◦ Small populations face stronger drift until numbers recover.
 Example:
◦ Natural disaster wipes out a large percentage of a population,
leaving only a random assortment of survivors.
 Founder Effect
 Definition:
A form of genetic drift that occurs when a small group from a
population establishes a new colony.
 Key Characteristics:
◦ New colony's gene pool may not represent the original population's
genetic diversity.
◦ Allele frequencies differ from the original population, with some
alleles missing entirely.
 Impact:
◦ New population experiences strong genetic drift due to its small size.
Example:
A few individuals migrate to a new location and establish a
population, carrying only a subset of the original gene pool
Founder effect eliminates genes from a population
 Gene Flow (Immigration and Emigration)
Gene flow, also known as migration, is the transfer of genetic material
through the movement of individuals between populations.
 Events of Gene Flow:
◦ Examples include pollen dispersal by wind or movement of people
between locations.
◦ Introduces new gene versions to a population, enhancing genetic
variation.
◦ Example: A brown coloration gene transferring from one population to
another.
 Immigration:
◦ New organisms join a population.
◦ Effect: Alters allele frequencies, increasing genetic diversity.
 Emigration:
◦ Members of a population leave and take their genes with them.
◦ Effect: Reduces genetic diversity in the original population.
 Gene Transfer:
◦ Definition: Flow of alleles between species.
◦ Horizontal Gene Transfer (HGT): Common in bacteria,
where genes move across unrelated species.
 Impact:
 Alters gene pools, impacting population adaptation
and evolution
Thank you
Mr. Mintesnot Aklilu