MCB 2400 Lecture Notes - Lecture 16: Genome-Wide Association Study, Phenylalanine Hydroxylase, Toxoplasma Gondii

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Identifying causative disease genes and mutations (mapping genes) Pedigree analysis: examine multiple pedigrees from cross population. Linkage analysis: do two things occur at the same time, generally together. Mapping genes: need to find a stretch of dna that is co-inherited with the disease. Identify as type of marker (cid:858)ma ke (cid:859) (cid:373)ust al(cid:449)ays (cid:271)e present in persons with disease (cid:858)ma(cid:396)ke(cid:396)(cid:859) (cid:373)ust almost never be present in unaffected individuals. This o(cid:272)(cid:272)u(cid:396)s (cid:449)he(cid:374) the (cid:858)(cid:373)a(cid:396)ke(cid:396)(cid:859) is (cid:272)lose e(cid:374)ough to the (cid:272)ausative gene that recombination does not separate them: recombination is much less frequent. Linkage: when genes (loci) are located close to each other on the same chromosome and crossing-over during meiosis is needed to generate different allele combinations. Recombinant frequency: (frequency of phenotype) correlates to how closely the genes are. Genes that are physically distant will behave as if unlinked (50% recombination frequency) independent assortment. Genes that are very close to one another will very rarely be separated (<50% recombination frequency)

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