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Biology (Biological Sciences)
Darren De Lorey

BIOL207 B01 Lec07 2014-01-20 CHAPTER 4 A. Definitions 1. Mutation = change i. Change in DNAsequence and/or phenotype … ii. Not all mutations results in mutant phenotypes iii. Not all mutations are deleterious 1. can be neutral 2. can give a selective advantage 3. can be deleterious (can be selective disadvantage) iv. Most mutations that affect a protein coding gene or its expression are loss-of- function mutations 2. All variation in DNAcomes from mutation i. Polymorphism (rather than mutation) describes variants that are common in a population (>1%), and for which no obvious “wild-type” allele can be distinguished B. Origins of mutations 1. spontaneous OR induced (purposeful or not) 2. biological, chemical, physical mutagens i. mutations of biological origin 1. DNAstrand slippage a. Tandem repeats of simple sequences (di-, tri-, tetra- nucleotides) are prone to mistakes (i.e. slippage) during replication b. This can cause increase or decrease in the number of repeats present at a given locus c. Slippage occurs frequently enough to produce polymorphisms that can distinguish individuals in a population, but is usually heritable between generations d. SSR = simple sequence repeat = microsatellite loci 2. Transposable elements Barbara McClintock http://www.nobelprize.org/mediaplayer/?id=1617 a. Two main classes i. Class I : move by copy/paste of an RNA
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