Mutation

Lecture 6
 MUTATIONS

• changes in the genetic material

that are heritable and essentially
permanent
• may be spontaneous or induced by
physical or chemical agents
• classification:
1. chromosomal mutation
2. gene mutation
 CHROMOSOMAL
MUTATION
Euploidy Aneuploidy Structural changes

Monoploidy Polyploidy

Triploidy Tetraploidy
CHROMOSOMAL MUTATIONS
1.Euploidy
• changes in the number of whole sets of
chromosomes
1.1. monoploidy (X) –only a set of
chromosomes
1.2. polyploidy
1.2.1. triploidy (3X)-three complete sets of
chromosomes-e.g. bananas,
1.2.2. tetraploidy (4X) –four complete sets
of chromosomes-e.g. potato, peanuts, C.
arabica
2. Aneuploidy
• changes in the number of
chromosomes in a genome

2.1. Aneuploidy involving addition of

whole chromosomes
2.1.1 Trisomics (2n+1)
- one extra copy of a chromosome
-ex: Down’s syndrome (Trisomy 21)
Figure 12.10
TRISOMICS (2n+1)
 2.1.2. Tetrasomics (2n+2)
• two extra copies of a chromosome

Acute myelogenous leukemia with

tetrasomy 8
2.1.3. Double trisomics (2n +1 +1)
• extra copies of two different chromosomes
 Aneuploidy involving addition of whole
chromosomes
Trisomy Double Trisomy
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2)
(1)

Tetrasomy
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1)
(1)
2.2. Aneuploidy involving loss of one or
more chromosomes

2.2.1. monosomics ( 2n-1)

• missing copy of one chromosome

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11,)
2.2.2. nullisomics (2n-2)
• a pair of homologous chromosomes
missing

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
2.2.3. double monosomics (2n-1-1)
• missing copy in 2 different chromosomes

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12)

(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
Aneuploidy involving loss of one or more
chromosomes
Monosomics
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11,)

Nullisomy
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)

Double monosomics
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12)
(1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
3. Structural changes
3.1.deficiencies/deletions
• loss of a segment of chromosome

If too much information is lost, it may be fatal to the organism and may
result in early death (e.g., Cri-du-chat syndrome – large deletion from
chromosome #5)
3. Structural changes
3.2. duplications
• insertion of one or more copies of a
chromosome segment
3.3. Inversion
• an internal segment of a chromosome is
detached from the chromosome and is
inverted before reattachment
3.4. Translocation
• involve an exchange in segments between
two non-homologous chromosomes
GENE MUTATION/ POINT MUTATION

• involve changes that are confined to one

or more loci
1. Substitution
• may or may not affect amino acid
Do this: Change one letter in the
sentence to represent a substitution
mutation.

• The cat ate the rat

• Thc cat ate the rat.

• The hat ate the rat.

 1.1. Nonsense mutation
- a codon that codes for an amino acid is
transformed into stop codon that causes
premature termination of translation

Nonsense mutation
normal: 3’ TAC TGC GTT ACG TAG GAA 5’
mRNA : 5’ AUG ACG CAA UGC AUC CUU 3’
amino acid: fmet- thr- gln- cys- ile- leu

mutant: 3’ TAC TGC GTT ACT TAG GAA 5’

mRNA : 5’ AUG ACG CAA UGA AUC CUU 3’
amino acid: fmet- thr- gln
1.2. Missense mutation
• The mutant codon codes for an amino acid that
is different from the original
• product has a different amino acid sequence

normal: 3’ TAC TGC GTT ACG TAG GAA 5’

mRNA : 5’ AUG ACG CAA UGC AUC CUU 3’
amino acid: fmet –thr- gln- cys- ile- leu

mutant: 3’ TAC TGC GTA ACG TAG GAA 5’

mRNA : 5’ AUG ACG CAU UGC AUC CUU 3’
amino acid: fmet –thr- his- cys- ile- leu
1.3. Same sense (silent) mutation
• Though the sequence of the codon is altered,
the mutant codon still codes for the same amino
acid
• This is due to the degeneracy of the genetic
code
normal: 3’ TAC TGC GTT ACG TAG GAA 5’
mRNA : 5’ AUG ACG CAA UGC AUC CUU 3’
Amino acid: fmet –thr- gln- cys- ile- leu

mutant: 3’ TAC TGC GTC ACG TAG GAA 5’

mRNA : 5’ AUG ACG CAG UGC AUC CUU 3’
Amino acid: fmet –thr- gln- cys- ile- leu
2. Insertion

normal : 3’ TAC TAC TAC TAC TAC 5’

mRNA : 5’ AUG AUG AUG AUG AUG 3’
amino acid: fmet –met –met –met –met

mutant : 3’ TAC TAC CTA CTA CTA 5’

mRNA : 5’ AUG AUG GAU GAU GAU 3’
amino acid: fmet –met –asp – asp –asp
Do this:
1. Insert a letter into any word.
2. Rewrite the sentence. Each word must
have only 3 letters to represent the
codon.

The cat ate the rat.

• The cat ate the rat.
• The cca tat eth era t.

• The sentence no longer makes sense.

3) Deletion

Do this:
1. Delete one letter from any word.
2. Rewrite the sentence. Each word must
have only 3 letters to represent the
codon.

The cat ate the rat.

• The cat ate the rat.
• Thc ata tet her at

• The sentence no longer makes sense.

Prepared by:
ACPanaligan