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Mutation
Dr. Rayhan Shahrear
MS Resident (Phase A, Year 1, Block 2)
Department of Anatomy, BSMMU
Guided by – Prof. K. M. Shamim
2
3
Mutation is
• a permanent change
• in base sequence
• of the genome
• of an organism
• or in extra-chromosomal genetic elements
4
Causes of Mutation
5
6
7
8
9
• Benzene
• Vinyl chloride
• Formaldehyde
• Dioxane
• Acrylamide
• Ethidium
bromide
• Formaldehyde
• Dioxane
• Nicotine
• Ethanol
• Mercury
compounds
• Lead compounds
• Phenol
• Carbon disulfide
• Toluene
• Xylene
10
Types of Mutation
11
12
GGTAGCGTGTTGA
T C A A C A C G
C
G C T A C C C A
G T
A
T T
A C
G G C A C
C G T GC
G A
T
Deletion and insertion
13
Reciprocal translocation
14
Robertsonian translocation
15
Inversion
16
17
Normal hemoglobin
ATG GTG CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT
Met Val His Leu Thr Pro Glu Glu Lys Ser Ala Val Thr
18
Sickle cell hemoglobin
ATG GTG CAC CTG ACT CCT GTG GAG AAG TCT GCC GTT ACT
Met Val His Leu Thr Pro Val Glu Lys Ser Ala Val Thr
D CN ASS H E H A O E F A T C A T
She has one fat catShe had ona cef atc atShe had one fat cat
19
Impact of Mutation
20
21
22
DMD
by deletion
in short arm
of X chromosome
23
Down’s
syndrome
Translocation
of 21q
on 14
24
25
26
27
28
Summary
29
•Define mutation
•Develop the understanding of
• Causes of mutation
• Different types of mutation
• Effects of mutation
• Prevention of mutation
30
31
Thank you
32

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