“

MUTATIONS
• Evolutionary Tool ?
S • Sports of Nature ? ”
Mutation is the permanent alteration of the 
nucleotide sequence of the genome of an 
organism, virus, or extrachromosomal DNA 
within its genetic material..
 CAUSES OF MUTATIONS:-

 Mutagens (PHYSICAL)
 Mutagens (CHEMICAL)
 ERRORS during DNA REPLICATION  (especially
during meiosis) or other types of damage to DNA.
 Mutations may result from insertion or deletion of
segments of DNA due to mobile genetic elements.
 OR caused during an ERROR in other forms of repair,
 Mutations in GERM cells
•GERM CELLS (cells that give rise to the gametes.
• These are Hereditary as GENETIC DISORDERS.


 Muations in SOMATIC cells
•Theae are not passed to the offsprings
•These are not hereditary
 Types of MUTATIONS
-classified Based on mode of
1.
occurence.
1. DELETION
deletion (also
called gene deletion, deficiency,
or deletion mutation) (geneticic
aberration) in which a part of a 
chromosome or a sequence of DNA
 is lost during DNA replication.
• Any number of nucleotides can
be deleted, from a single base to
an entire piece of chromosome.
• Deletions can be caused by
errors in chromosomal crossover
 during meiosis, which causes
several serious genetic diseases. 
2.
INVERSION
  An inversion is  chromosome
rearrangement in which a
segment of a chromosome
reversed end to end. An inversion
occurs when a single chromosome
undergoes breakage and
rearrangement within itself.
Inversions are of two types: 
(I) Paracentric :-Paracentric
inversions do not include the 
centromere and both breaks occur
in one arm of the chromosome.

(ii)Pericentric.:-Pericentric
inversions include the centromere
and there is a break point in each
arm.
3.
DUPLICATIO
N
• DUPLICATION occurs when a
sequence of gene is repeated.
•.Gene
duplication (or chromosomal
duplication or gene
amplification) is a major
mechanism through which new
genetic material is generated
during molecular evolution .
• It can be defined as any
duplication of a region of DNA that
contains a gene.
•Gene plicationsns can arise as
products of several types of errors
in DNA replication and repair
machinery as well as through
fortuitous capture by selfish genetic
elements. 
4.
TRANSLOCATION
• These kind of mutations involve 2
chromosomes that are not
homologous .
• Part of one chromosome is
Transferred to the other.
TRANSLOCATIO  is a 
chromosome abnormality  caused by
rearrangement of parts between
nonhomologous chromosomes.
A gene fusion may be created when
the translocation joins two
otherwise-separated genes. It is
detected on cytogenetics or a 
karyotypeof affected cells.
Translocations can be balanced (in
an even exchange of material with
no genetic information extra or
missing, and ideally full
functionality)
or unbalanced (where the
exchange of chromosome material
is unequal resulti
Based on MUTATIONS produced due
to AMINO ACID changes there are 4.
types of POINT MUTATIONS they
are :-

1. Silent Mutations

2. Mis-sense Mutations

3. Non-sense Mutations
1. Silent
Mutations

•Silent Mutations Change

nucleotude but not the AUG UAU CCA UAU
amino acid sequence because
they affect third position of
codon , which is usually less Met Tyr Pro
important in coding . Tyr
• Generally these silent
Mutations leaves the protein
sequence unchanged.
Met Tyr Pro
• for example, if the codon CCA
is altered to become CCU , the same amino Tyr
acid –PROLINE– will be incorporated into
the peptide chain. AUG UAU CCU UAU
2. MISENSE
tMUTATIONS
is the change of
meaning of a codon ,
changing one amino
acid into an other
amino acid .
For Example,
•CAT codes for HIS
While,
• CCT codes for PRO
3. NON SENSE
MUTATIONS
• It arises when codon
for an amino acid is
terminated into a
terminating codon i.e
UAG, UGA , UAA
• THIS RESULTS IN
PRODUCTION OF
SHORTER PROTEIN.
•For example,
4. FRAME-SHIFT
MUTATION
• These arise from
insertion or deletion of
individual nucleotides and
cause the rest of the
message downstream of the
mutation to be read out of
phase !.
• this results in production
of incorrect protein
• FOR EXAMPLE
Here is a list of a few very rare and
weird genetic disorders

 1. Progeria  7. Diprosopus
 2. Hypertrichosis  9. Feet facing
 3. Epidermodysplasia backward.
Verruciformis  11. Cutaneous horn
 4. Ectrodactyly
 5. Neurofibromatosis
 12. Harlequin
 6. Proteus Syndrome ichthyosis

“

”
“

”
“

”
“