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DNA Mutations and Repair

DNA Mutations and Repair. Chapter 18 Part 1. Gene Mutations and Repair. Nature of mutations Causes of mutations Study of mutations DNA repair. Source of Mutations. Nuclear accidents. Chernobyl, April 26 th , 1986. Source of Mutations.

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DNA Mutations and Repair

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  1. DNA Mutations and Repair Chapter 18 Part 1

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

  3. Source of Mutations Nuclear accidents Chernobyl, April 26th, 1986

  4. Source of Mutations Japan’s Tsunami disabled reactors at the Fukushima Plant March 11, 2001

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

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

  7. Somatic and germ line

  8. Achondroplasia Autosomal Dominant

  9. 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

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

  11. PURINE TO PYRIMIDINEPYRIMIDINE TO PURINE PURINE TO PURINE

  12. Expanding trinucleotide repeats

  13. Fragile X Syndrome Pre-mutation

  14. Fragile X syndrome:FMR-1 gene

  15. Update on diagnosis of fragile X Syndrome: Fragile X syndrome was originally diagnosed by culturing cells in a folate deficient medium and then assessing the cultures for X-chromosome breakage by cytogenetic analysis of the long arm of the X-chromosome. This technique proved unreliable for both diagnosis and carrier testing. The fragile X abnormality is now directly determined by analysis of the number of CGG repeats and their methylation status using: restriction endonuclease digestion and Southern blot analysis.

  16. Strand slippage may cause repeats

  17. Phenotypic changes and mutations

  18. Spontaneous: slippage

  19. Reverse mutation Forward mutation

  20. Forward versus Reverse Mutations

  21. Terms associated with PHENOTYPIC effects of mutations on protein structure

  22. 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

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

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

  25. Intragenic Suppressor Mutations

  26. Intergenic Mutation

  27. Lethal Mutations

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

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