BIO 2133 Study Guide - Final Guide: Mutation Rate, Capillary Electrophoresis, Dideoxynucleotide

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9 Nov 2017
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No longer need to look at phenotypes because we have access to the genes/genome themselves and can look for mutations directly within the sequence. Can have multiple genes affecting a single characteristic, environmental factors can impact gene expression, may not see heterozygosity. Genetic markers: inherited variations that are used to test genetic hypothesis. 5 conditions that characterize a suitable molecular marker. Must be polymorphic: a polymorphic site or locus is a location in the genome where at last two versions of the sequence exist in the population, each with a frequency of at least 1% Randomly and frequently distributed throughout the genome. Can be before, after, or in a gene - may not affect phenotype. Detection: northern or southern analysis, sequencing, rflp analysis. Snp genotyping: intensity matters - darker spots indicate homozygosity: snp inheritance is mendelian. Can affect lengths and differences may be seen on gels. Can be detected using rflp analysis (see below)