NATS 1690 Study Guide - Midterm Guide: Mutation, Barr Body, Consanguinity
16 Oct 2011
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1 or both alleles may be mutated. Parents move to opposite end of cell. Male infertility males get it from mother female will be carrier if mutated x from father. Females only affected if mother is carrier and father is mutated. Thalassemia (imbalance of hb units = mix of alpha and beta. Both parents must be carriers, and 1 must have mutated beta. Father passes mutation to all his sons, and none of his daughters. Females only affected if they"re homozygous recessive females that are hetero can be carriers. No male to male transmission; son must get mutation from maternal grandfather. Germline mutation: heritable found in every cell. Polyploidy: more than 2 complete sets of chromosomes in an organism. Pedigree: traces the pattern of inheritance of traits from generation to generation make predictions about future offspring mostly used for medical reasons track the transfer of a condition. Incomplete penetrance- mutated gene that does not manifest the disease.
