MutationDr. Rayhan ShahrearMS Resident (Phase A, Year 1, Block 2)

Department of Anatomy, BSMMU

Guided by – Prof. K. M. Shamim

2

3

4

Mutation is• a permanent change• in base sequence• of the genome• of an organism• or in extra-chromosomal genetic elements

5

Causes of Mutation

6

7

8

ƴ-rayUV-rayX-ray

9

• Benzene• Vinyl chloride• Formaldehyde• Dioxane• Acrylamide• Ethidium

bromide• Formaldehyde• Dioxane

• Nicotine• Ethanol• Mercury

compounds• Lead compounds• Phenol• Carbon disulfide• Toluene• Xylene

10

11

Types of Mutation

12

InsertionSubstitutionDeletion

GGTAGCGTGTTGAT C A A C A C G

CG C T A C C C A

G TA

T TA C

G G C A CC G T GC

G AT

13

Deletion and insertion

14

Reciprocal translocation

15

Robertsonian translocation

16

Inversion

17

TSASFRBE TB ST

18

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

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

19

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

20

Impact of Mutation

21

22

23

DMDby deletionin short armof X chromosome

24

Down’s syndromeTranslocationof 21qon 14

25

26

27

28

29

Summary

30

•Define mutation•Develop the understanding of • Causes of mutation • Different types of mutation • Effects of mutation• Prevention of mutation

31

32

Thank you