INTEGBI 35AC Lecture Notes - International Hapmap Project, Quantitative Genetics, Mutation

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Environment and human culture acts as selecting agent. Genetic influence on phenotypic variation: monogenic one gene (simplest) Ex: peas: oligogenic a few genes. Ex: eye color: polygenic many genes. Pathological conditions, diseased conditions can be the result of extreme alleles of the genes involved in normal variation. Mendel 1865 austrian monk who worked with inheritance: darwin had no clue how this happened (had a theory that was wrong, crossed true breeding pea plants saw theme, use punnet squares/stats. Very lucky he chose pea plants and certain phenotypes: conclusions: inheritance is a transition of matter, offspring are averages of their parents, factors are inherited separately from each other. Terms: allele, locus, homozygous, heterozygous, dominant, recessive phenotype, genotype. Earlobes: unattached (e) dominant, attached (e) recessive: random variation, no adaptive significance, on an autosomal chromosome. Marfan syndrome: autosome (chromosome #15, fbn1, dominant. It is hereditary but it"s easy to get. Cystic fibrosis: autosomal, recessive, can be shown with pedigree.

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