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DNA Mutations and Repair

DNA Mutations and Repair. Chapter 17 Part 1. Gene Mutations and Repair. Nature of mutations Causes of mutations Study of mutations DNA repair. Nature of Mutations. Chernobyl, April 26 th , 1986.

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DNA Mutations and Repair

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  1. DNA Mutations and Repair Chapter 17 Part 1

  2. Gene Mutations and Repair • Nature of mutations • Causes of mutations • Study of mutations • DNA repair

  3. Nature of Mutations Chernobyl, April 26th, 1986

  4. Mutation: is defined as an inherited change in genetic information by cell division or individual organisms.

  5. Mutations can be classified into categories. Categories of mutations

  6. Somatic and germ line

  7. Achondroplasia Autosomal Dominant

  8. Gene Mutations can also be classified by type of mutation • 1. Base Substitutions □2. Insertions and deletions • 3. Frameshift mutations • 4. Expanding trinuleotide repeats Lead to

  9. Gene Mutations can also be classified by type of mutation • Base Substitutions Transitions and Transversions can be

  10. PURINE TO PYRIMIDINEPYRIMIDINE TO PURINE PURINE TO PURINE

  11. Expanding trinucleotide repeats

  12. Fragile X Syndrome Pre-mutation

  13. Fragile X syndrome:FMR-1 gene

  14. Strand slippage may cause repeats

  15. Spontaneous: slippage

  16. Phenotypic changes and mutations

  17. Reverse mutation Forward mutation

  18. Forward versus Reverse Mutations

  19. Terms associated with PHENOTYPIC effects of mutations on protein structure Can be “neutral” redundancy

  20. Phenotypic effects can also change function Gain of Gene Function1 Loss of Gene Function2 1 Sullivan, J.P. et al., Department of Pathology, College of Veterinary Medicine, 1998 The University of Georgia, Athens, GA or Qualtek Molecularlabs Web Site

  21. Loss of Function can also occur! Typically recessive mutations!

  22. Suppressor Mutations is a genetic change that hides the effect of another mutation

  23. Intragenic Suppressor Mutations

  24. Intergenic Mutation

  25. Lethal Mutations

  26. Do you remember something about each type of mutation?

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