BIOA01H3 Chapter 11: Genes, Chromosomes, and Human Genetics

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22 Oct 2015
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Sachs disease, huntington"s disease: because we cannot do breeding experiments on humans, we must use pedigrees to study inheritance, pedigrees, pedigrees are an orderly diagram of a families relevant genetic features extending through multiple generations. Mendelian ratios rarely observed: pedigrees help us infer if a trait is from a single gene and if the trait is dominant or recessive, allow inferences concerning genotypes and predictions concerning phenotypes of offspring (genetic counseling) Pseudo-achondroplasia (dwarfism), huntington disease, polydactyly, brachydactyly, piebald spotting. Autosomal polymorphisms: two or more common alleles, ex. eye colour, hair colour/curliness, chin dimple, widow"s peak, attached earlobes, freckles, ability to taste phenylthiocarbamide (ptc), tongue rolling. Sex-linked genes: 44a and xx is female, 44a and xy is male, homogametic(only x gametes/eggs, heterogametic(x and y gametes/sperm, segregate equally into gametes at meiosis, offspring- xx (female): xy (male) The f1 females have red eyes; they are all heterozygous xw+xw. Linkage: genes are not linked, recombination frequency is 50%

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