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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 26th, 1986 Mutation: is defined as an inherited change in genetic information by cell division or individual organisms. Mutations can be classified into categories. Categories of mutations Somatic and germ line Achondroplasia Autosomal Dominant Gene Mutations can also be classified by type of mutation 1. Base Substitutions □ 2. Insertions and deletions Lead to 3. Frameshift mutations 4. Expanding trinuleotide repeats Gene Mutations can also be classified by type of mutation Base Substitutions can be Transitions and Transversions PURINE TO PURINE PURINE TO PYRIMIDINE PYRIMIDINE TO PURINE Expanding trinucleotide repeats Fragile X Syndrome Pre-mutation Fragile X syndrome:FMR-1 gene Strand slippage may cause repeats Spontaneous: slippage Phenotypic changes and mutations Forward mutation Reverse mutation Forward versus Reverse Mutations Terms associated with PHENOTYPIC effects of mutations on protein structure Can be “neutral” redundancy Phenotypic effects can also change function Gain of Gene Function 1 1 Sullivan, J.P. et al., Department of Pathology, College of Veterinary Medicine, 1998 The University of Georgia, Athens, GA or Loss of Gene Function Qualtek Molecularlabs Web Site 2 Loss of Function can also occur! Typically recessive mutations! Suppressor Mutations is a genetic change that hides the effect of another mutation Intragenic Suppressor Mutations Intergenic Mutation Lethal Mutations Do you remember something about each type of mutation?