Mutation
Mutant
A mutated gene, alternatively, an organism carrying a gene that has undergone a mutation
Mutagen
An agent that induces changes in DNA includes physical agents that DNA/ chemical that
alters DNA bases or by radiation
Type of Mutation
1. Spontaneous Mutation : mistakes happen spontaneously during DNA
replication
2. Induced Mutation: organism exposed to mutagens /caused by mutagens
ii)
1. Base substitution
1 of the nucleotides is replaced with another nucleotide with different base
Leads to different DNA sequence and will be transcribed into different MRNA
The codon of a particular amino acid will be different
The altered MRNA will be translated into a peptide with different amino acid sequence
CAC - AAG - UAU - CAC - UAA
His
lys
tyr
his
(before mutation)
stop
IF MUTATED
CAC - AAG - UGU - CAC - UAA
His
lys
cys
lys
his
(missense mutation)
stop
(nonsense mutation)
stop
Missense mutation
Amino acis valine (val) replaces glutamic acid at a single position in protein (- strained)
Patient suffer from anaemia Hb-S stiff and tend to accumulate in small capillary
Frame-shift Mutation
Normal code:
DELETION:
pro
lys
pro
INSERTION:
val
ser
leu
asn
leu
val
pro
glu
thr
Involve insertion / deletion of a base pair or more into the nucleotides sequence of DNA
Base inversion
Chromosomal Mutation
a. Structural change of chromosome
Abnormalities that occur at chromosome structural due to the changes during meiosis
1. Deletion
The lost of 1 chromosome segment containing 1 or more gene
Fatal even in a heterozygous condition; miscarriage, die in pregnancy; die during baby
level
Example: cri du chat syndrome
Deletion of part of the short arm of chromosome 5
Symptom : catlike cry, small head, facial abnormalities (wide face, wide distance
between eyes) mentally retarded)
2. Inversion
A region of chromosome breaks off and rotates through 180 degrees before rejoining the
same chromosome
Genetic material of chromosome does not disappear
This inversion chromosome can direct to the meiosis process
It enhance variation among the offspring
Process that suppresses crossing over
3. Translocation
Involve deletion and insertion
Deletion : a chromosome lose part of its segment
Insertion : a chromosome receives part of other segments
Translocation: involves a regional segment of a chromosome breaking off and rejoining
either the other end of the same chromosome or another non-homologous
Reciprocal translocation will only involve the exchange of genetic material
Results in the unbalance combination of genetic material, because:
Unequal genetic material being exchanged
Unequal length of the segment being exchanged
4. Duplication
A region of chromosome becomes duplicated; an additional set of genes exists.
Aneuploidy
Condition where diploid cell (2n) gain / loss 1 or more chromosome
Disjunction: homologous chromosome separated to opposite pole during meiosis
Non-disjunction: both sets of chromosome pass to same pole of the cell
Half the daughter cells produce have an extra chromosome (n+1) whilst the other half
have a chromosome missing (n-1)
Fusion gametes between chromosome (n+1) and normal chromosome (n) produced
embryo with chromosome (2n+1) : Trisomy (e.g. Downs syndrome)
Fusion gametes between chromosome (n-1) and normal chromosome (n) produced
embryo with chromosome (2n-1) : Monosomy (e.g. Turner syndrome)
Downs syndrome
Shorter stature
Mentally retarded
Sterile
Short neck
Aneuploidy
Can involve autosome / sex chromosome
Abnormalities in sex chromosome number
- non-disjunction during spermatogenesis
- non- disjunction during oogenesis
Abnormalities in autosome chromosome
XXX Female
normal female with mentally retarded, webbed neck
usually long legs, normal development of sexual characteristics
EUPLOIDY/ POLYPLOIDY
Changes of chromosome number which involves the whole chromosome set (genome)
Number of sets of chromosome exceeds the diploid number by a multiple of n
Occurred when a set of chromosome did not separate during gametogenesis
It happens due to failure of spindle fibers in mitosis or meiosis to segregate chromosomes
into separate group
Common in plants than animals