Mutation

WEEK 3
01
OBJECTIVES
01 UNDERSTANDING
MUTATIONS
Provide an overview of what mutations are
and how they occur at the genetic level.

02 DISCUSS THE ROLE

IN EVOLUTION
Understand how mutations contribute to the
process of evolution by introducing genetic
diversity within populations.
introduction
• Sudden heritable change in genetic material or
character of an organism is known as mutation

• Individuals showing these changes are known

as mutants

• An individual showing an altered phenotype

due to mutation are knownvariant
as

• Factor or agents causing mutation are known

as mutagens

• Mutation which causes changes in base

sequence of a gene are known as gene mutation
or point mutation
introduction
Mutation is the alteration of a gene's structure,
leading to variant forms that can be transmitted
to future generations, ultimately introducing
new variation into species.

Mutations in approximately 1000 genes cause

disease, affecting chromosome structure or
nucleotide sequence. These mutations occur in
germ cells or somatic cells, with germ cells
capable of perpetuating through sexual
reproduction.
GENE
- Is a change in one or more
MUTATION
genes. Some mutations can lead
to genetic disorders or illnesses.
CHROMOSOME
MUTATION
DELETION
• Due to breakage
• A piece of a chromosome is lost
I N V E RT I O N
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches
D U P L I C AT I O
N when a gene sequence is repeated
• Occurs
• Results in multiple
copies of that region
T R A N S L O C AT I O N
• Involves two
chromosomes that aren't
homologous.
• Part of one chromosome is
transferred to another
chromosom es.
 MUTATION BENEFITS
1. GENETIC VARIETY
New genetic variants are brought about
by mutations, which encourage genetic
variety within a population.

2. EVOLUTIONARY
ADAPTATION
A characteristic that increases an
organism's ability to survive in shifting
environmental conditions can result from
advantageous mutations.
 MUTATION BENEFITS
3. SPECIATION
Mutations play a key role in the process of
speciation, where new species arise. Accumulation
of genetic differences, often driven by mutations,
can result in distinct populations that are
reproductively isolated from each other.

4. IMMUNE SYSTEM
VARIATION
Mutations in immune system genes
enhance diversity of immune responses,
enabling populations to resist a wider
range of pathogens, crucial for species
survival in evolving diseases.
 SUMMARY
A mutation is a change in the DNA sequence of an
organism, which can occur through various mechanisms
such as DNA replication errors, exposure to mutagenic
agents, or environmental factors. Mutations can lead to
alterations in the phenotype of an organism, which can
be beneficial, harmful,neutral and influencing human
health and disease. They play a crucial role in genetic
diversity, evolution, and the development of genetic
disorders and cancers. Understanding mutations is
essential for studying genetics, disease mechanisms, and
evolutionary processes.
THANK
YOU!
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