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Mutation

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changes in chromosomal structure and number

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Page 1: Mutation
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MUTATIONAND

MUTATION PRESSURE

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GENETIC DRIFT

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Hot spot

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TYPES OF MUTATION

GENE MUTATION

CHROMOSOMAL MUTATION

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Harmful Beneficial Neutral

FUNCTIONALLY

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STRUCTURALLY

1. Point Mutation

2. Frameshift Mutation

3. Silent Mutation

4. Missense Mutation

5. Nonsense Mutation

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1. POINT MUTATION

DELETION

TRANSITION

TRANSLOCATION

INVERSION

INSERTION

TRANSVERSION

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2. Frameshift Mutations

Insertion

Deletion

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INSERTION

Normal geneGGTCTCCTCACGCCA

↓

CCAGAGGAGUGCGGU

Codons

↓

Pro-Glu-Glu-Cys-GlyAmino acids

Addition mutationGGTGCTCCTCACGCCA

↓

CCACGAGGAGUGCGGU

↓

Pro-Arg-Gly-Val-Arg

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DELETION

Normal geneGGTCTCCTCACGCCA

↓

CCAGAGGAGUGCGGU

Codons

↓

Pro-Glu-Glu-Cys-GlyAmino acids

Deletion mutationGGTC/CCTCACGCCA

↓

CCAGGGAGUGCGGU

↓

Pro-Gly-Ser-Ala-Val

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3. SILENT

4. MISSENSE

5. NONSENSE

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VARIATION IN CHROMOSOMES STRUCTURE

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Chromosome MutationsDeletion

ABC *DEF

AC * DEF

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Chromosome Mutations

Cri-du-chat

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Chromosome Mutations

ABC * DEF

ABBC *DEF

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Chromosome Mutations

Inversion

ABC * DEF

AED * CBF

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Chromosome Mutations

Translocation ABC * DEF GHI *JKL

ABC *JKL GHI *DEF

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VARIATION IN CHROMOSOME NUMBER

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POLYPLOIDY

ANEUPLOIDY

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Chromosome Mutations

Down Syndrome

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Sex Chromosome Abnormalities Klinefelter’s Syndrome

› XXY, XXYY, XXXY› Male› Sterility› Small testicles› Breast enlargement

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Sex Chromosome Abnormalities XYY Syndrome

› Normal male traits› Often tall and thin› Associated with antisocial and behavioral

problems

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Sex Chromosome Mutations

Turner’s Syndrome› X› Female› sex organs don't mature at adolescence› sterility› short stature

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Sex Chromosome Mutations

XXX Syndromeo Trisomy Xo Femaleo tall statureo learning disabilitieso limited fertility

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Causes Of

Mutations

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Mutation Pressure

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There is’nt any need to ask….! otherwise see

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