The document discusses mutations, defining them as permanent changes in the genome or extra-chromosomal elements. It outlines various causes and types of mutations, including deletion, insertion, and translocation, as well as their effects on conditions like sickle cell anemia and Down's syndrome. The key points also emphasize understanding the causes, types, effects, and prevention of mutations.

1. Mutation
Dr. Rayhan Shahrear
MS Resident (Phase A, Year 1, Block 2)
Department of Anatomy, BSMMU
Guided by – Prof. K. M. Shamim

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4. Mutation is
• a permanent change
• in base sequence
• of the genome
• of an organism
• or in extra-chromosomal genetic elements
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5. Causes of Mutation
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• Benzene
• Vinyl chloride
• Formaldehyde
• Dioxane
• Acrylamide
• Ethidium
bromide
• Formaldehyde
• Dioxane
• Nicotine
• Ethanol
• Mercury
compounds
• Lead compounds
• Phenol
• Carbon disulfide
• Toluene
• Xylene

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11. Types of Mutation
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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

13. Deletion and insertion
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14. Reciprocal translocation
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15. Robertsonian translocation
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16. Inversion
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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
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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
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20. Impact of Mutation
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23. DMD
by deletion
in short arm
of X chromosome
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24. Down’s
syndrome
Translocation
of 21q
on 14
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29. Summary
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30. •Define mutation
•Develop the understanding of
• Causes of mutation
• Different types of mutation
• Effects of mutation
• Prevention of mutation
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32. Thank you
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