01:119:115 Lecture Notes - Lecture 14: Mendelian Inheritance, Degenerative Disease, Lethal Consequences

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Mendelian genetics continues to be the foundation of human genetics. Humans are not good subjects for experimental genetic research: generation time too long, relatively few offspring in a lifetime, breeding experiments not acceptable. Given limitations, instead, can analyze results of mating already occurred. Inheritance patterns of particular traits can be traced and described using pedigrees (pedigree analysis) Pedigrees are family trees describing parent-offspring relations across generation. Widow"s peak is dominant trait for pointed contour of hairline on forehead. Many genetic disorders inherited in recessive manner. Show up only in individuals homozygous for allele (aa); heterozygotes (aa) are carriers. Albinism is recessive condition with lack of pigmentation in skin and hair fig 14. 16. Most people born with recessive disorder are born to parent carriers. If recessive allele causing disorder is rare, chance of 2 carriers meeting and mating is low. Consanguineous ( same blood ) mating increase chance two carriers of same rare allele mate.

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