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MOLECULAR BASIS OF MUTATION KISHOR  SAWAIKAR R A C WASHIM (MS) INDIA
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Molecular Basis of Gene Mutation Mutations are changes in the DNA sequence of genes. Point mutations typically refer to alterations of single base pairs of DNA or of a small number of adjacent base pairs.                  Mutations  in DNA caus e substitutions  in protein  
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<>       X-linked inheritance              Asymptomatic, hemizygous fathers pass &quot; fragile X &quot; chromosome to daughters              Heterozygous daughters transmit to 1/2 of sons, who show syndrome                                                                           1/2 of daughers are carriers                 Syndrome becomes more pronounced in successive generations                   expansioin of repeat occurs in female germline   # CGG repeats Geno / Phenotype     6 ~ 54 standard ~ 55 ~ 200 carrier > 200 Fragile-X Syndrome
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[object Object],[object Object],[object Object],chemical modification of  DNA  changes base pairing
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RESULTS OF THE EVALUATION QUESTIONNAIRE.pptx
 

Molecular basis of mutation by kss

  • 1. MOLECULAR BASIS OF MUTATION KISHOR SAWAIKAR R A C WASHIM (MS) INDIA
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  • 10. Molecular Basis of Gene Mutation Mutations are changes in the DNA sequence of genes. Point mutations typically refer to alterations of single base pairs of DNA or of a small number of adjacent base pairs.           Mutations in DNA caus e substitutions in protein  
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  • 21. <>      X-linked inheritance            Asymptomatic, hemizygous fathers pass &quot; fragile X &quot; chromosome to daughters            Heterozygous daughters transmit to 1/2 of sons, who show syndrome                                                                         1/2 of daughers are carriers                 Syndrome becomes more pronounced in successive generations                 expansioin of repeat occurs in female germline # CGG repeats Geno / Phenotype    6 ~ 54 standard ~ 55 ~ 200 carrier > 200 Fragile-X Syndrome
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