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Gene Mutation

Gene Mutation. *Mutation. Chromosome mutations/aberrations. Classification of Mutations. 1. Spontaneous vs. Induced Spontaneous mutation Induced mutation. 2. Gametic vs. Somatic Somatic mutation Gametic mutation. 3. Other categories. Gene Mutation.

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Gene Mutation

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  1. Gene Mutation *Mutation Chromosome mutations/aberrations Classification of Mutations 1. Spontaneous vs. Induced Spontaneous mutation Induced mutation 2. Gametic vs. Somatic Somatic mutation Gametic mutation 3. Other categories

  2. Gene Mutation How are mutations detected in humans? *Pedigree analysis *Cells cultured in vitro Analysis of enzyme activity, sequencing of proteins and DNA The molecular basis of mutation (Point mutations) 1. Base substitution transition transversion 2. Frame shift 3. Tautomeric shift 4. Base analogs 5. Chemical mutagens

  3. 2. UV light – thymine/thymine dimers Gene Mutation 3.Ionizing radiation The molecular basis of mutation (Structural damage) 1. “Missing bases” N-glycosidic bond – very weak and easily broken

  4. Genotype:IAIA, IAIO A A IBIB, IBIO IAIB IOIO B B B A A B A A A A A B A A B B B A B glycosyltransferase “H substance” 4 nucleotide differences glycosyltransferase B “H substance” X “H substance” Frame-shift=non-functional protein Gene Mutation Mutations in humans ABO Blood Types A A

  5. Gene Mutation DNA Repair 1. Photoreactivation *PRE – photoreactivation enzyme

  6. (BER) Gene Mutation 3. Excision repair DNA Repair 2. 3’ to 5’ exonuclease activity of DNA polymerases

  7. Gene Mutation 3. Excision repair

  8. Gene Mutation 4. Post-replication repair (recombination repair) recombined

  9. Gene Mutation 5. Inducible repair or SOS (prokaryotes) *”It’s better to be a mutant than be dead!”

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