L19 chapter 18

L19 chapter 18 - Genetics Biology 2306.04 Ch 18 Gene Mutations and DNA Repair Importance of Mutations Source of gene variation important in

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Unformatted text preview: Genetics Biology 2306.04 Ch 18: Gene Mutations and DNA Repair Importance of Mutations Source of gene variation - important in adaptation Cause genetic diseases Essential to study of genetics Useful for probing biological processes genetic dissection i.e. how do parts of a car work? • destroy radiator, engine overheats → radiator cools engine Types of Gene Mutations A. Base Substitution • Alteration of a single base • comprise less than 20% of all mutations 1. Transition: • purine → purine • pyrimidine → pyrimidine 2. Transversion: • purine → pyrimidine • pyrimidine → purine B. Insertions and Deletions addition or removal of one or more nucleotide pairs most common type of gene mutation insertions and deletions often produce frame shift mutations - alter reading frame in-frame insertions and deletions if an entire codon is added or deleted arise from unequal crossing over strand slippage C. Expanding Trinucleotide Repeats number of copies of a trinucleotide increases in succeeding generations number of copies correlates with severity of the disease or age of onset anticipation missense mutation- Alters amino acid in protein nonsense mutation- Alters sense codon to stop codon silent mutation- Does not alter amino acid due to synonymous codons and noncoding DNA Phenotypic Effects of Mutations neutral mutation- alters amino acid but does not affect function of protein loss-of-function mutation – complete or partial absence of normal protein function...
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This note was uploaded on 04/29/2008 for the course BIO 2306 taught by Professor Durhkopf during the Spring '08 term at Baylor.

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L19 chapter 18 - Genetics Biology 2306.04 Ch 18 Gene Mutations and DNA Repair Importance of Mutations Source of gene variation important in

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