10-Gene mutation and repair

10-Gene mutation and repair - Gene Mutations and DNA Repair...

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Gene Mutations and DNA Repair Chapter 17 Mutations: Primary Tools of Genetic Analysis o Mutations are heritable changes in DNA Chromosomal mutations Gene mutations o Cell - Dependent Somatic mutations Germ-line mutations See figure 17.2, page 475 Types of Mutations Affect on DNA molecule o Substitution A base is replaced by one of the other three bases 0. transitions and transversions o Deletion Block of one or more DNA pairs is lost o Insertion Block of one or more DNA pairs is added o Expanding Trinucleotide Repeat See figure 17.3, page 476 & 17.6, p. 478 Phenotypic effects of mutations o Forward Mutation: Changes wild type allele to mutant allele can be recessive or dominant o Reverse Mutation: Changes a mutant phenotype back to a wild- type (reversion) 0. Missense different amino acid substituted o Nonsense premature stop codon inserted 1. Silent mutation 0. Alteration of nucleotide does not alter aa See figure 17.7, page 479 Phenotypic effects of mutations
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o Other classifications neutral loss-of-function gain-of-function
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