BIOLOGY 1M03 Lecture 4: BIO 1M03 - Evolution and Genetics of Disease

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Evidence for history and function of genes: associations: gene-trait associations. Allele x is found in people with trait y. E. g. this allele causes colourblindness: gene-environment associations. Allele x is found in environment a. E. g. this allele/trait is common in hot climates (includes past environments: allele-geographic associations. Allele x is found in a particular area. E. g. this allele/trait is common in south asian populations. Evidence for history and function of genes: other information: mechanistic arguments. Allele x produces a protein that does z. Binds with another protein, changes gene expression: phylogenetic history. When did this gene arise: population history. How big has the population been over time: geographic variation in diversity. Locus x is more variable in location b. This locus has more allelic diversity in sub-saharan africa. Mendelian traits: single locus has a qualitative e ect. Snps (single-nucleotide polymorphisms: short insertions and deletions). Dominant/recessive (heterozygote may di er: incomplete dominance or overdominance).

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