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Gene mutation a a v why do diseases

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Unformatted text preview: variants " Gene flow " Evolution " influx of alleles " from other populations " (change in allele frequency) " Genetic drift " Change in frequency" of variants in " next generation" chance changes in allele frequencies " Selection " causal changes " in allele frequencies " Mutation—a permanent change to the genomic sequence (DNA) of a gene Mutation µ A a v Why do diseases persist in (human) populations? Example—Spinal Muscular Atrophy*   a neurodegenerative disease   weakness and wasting of muscles controlling voluntary movement   second most lethal autosomal recessive disease in Caucasians   caused (in part) by deletions in locus on chromosome 5 (telSMN)   condition has a frequency of ~ 1/10,000 overall ? • See http://www.ncbi.nlm.nih.gov/omim **Wirth et al. 1997. Am. J. Human Genetics 61: 1102-1111. Mutation-Selection Balance! •  Mutations put dele...
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