Lecture 5 - Genomic Variation & Mapping (part 1).docx

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Lecture 5: Genomic Variation & Mapping (part 1) - Nucleotide diversity between humans is estimated to be: a) 50% d) 1% b) 25 % e) 0.1% c) 10% - Define mutation. o Any permanent alteration in DNA sequence o Ex. Endogenous = error during DNA replication, recombination, DNA repair o Ex. Exogenous = UV radiation, chemicals Classes of Human Genetic Variation - Variants: mutations that result in alternative forms of DNA, can be either… o Common : minor allele frequency of atleast 1% in population o Rare: minor allele frequency of <1% in the population A) S INGLE N UCLEOTIDE V ARIATION ( IE . SNP S ) o 1/300 nts, up to 10 million SNPs in human genome o Most found in intergenic regions (neutral), but can occur within a gene or regulatory region o Can be synonymous or nonsynonymous o Is a SNP a mutation? Yes o Is a mutation a SNP? No B) S TRUCTURAL V ARIANTS o All base pairs that differ between individuals and that are not SNPs, 2 types… 1) Indels Only affect a few bases (but can be up to several kbs)
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  • Spring '11
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