BIOL207 Lecture Notes - Lecture 14: Twin, Online Mendelian Inheritance In Man, Wild Type
16 Oct 2013
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Lecture 14: mapping genes with meiotic recombination (con"t) Lecture 15: human pedigree analysis part 1. Human htt gene (omim: cytogenetic map 4p16, genomic map n/a, sequence map chr 4; 30xxxxx-32xxxxxx. Drosophila white gene: cytogenetic map 3b6, genomic map 1-1. 5, sequence map chr x;264xxxxx,269xxxxx. Studying human heredity difficulties: no humans are pure-breeding, crosses cannot be controlled in humans, humans do not have a lot of children. Identify families that have what resembles a mendelian cross. ) = mating (horizontal + vertical line)= siblings. A = wild-type a = mutant allele a/a = affected. Example: phenylketonuria (pku: pah gene is mutated. Production of tyrosine from phenylalanine is stopped. Damages the cns (central nervous system) of the affected individual. Not to worry though, pku can be treated by a diet low in phenylalanine (no phenylalanine = no production of phenylpyruvic acid) There are 450+ mutant alleles of the pah gene: therefore, people with pku are usually compound heterozygotes.
