BIOL 1F90 Lecture 23: lecture 23a
5 Dec 2016
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If mutations in the germ line---generation to generation: the majority of mutations are neutral, but if they affect the gene and how it functions. Can affect gene function by altering the gene itself: cystic fibrosis(single mutation chloride channel) Research focused on the ffects of mutations demonstrated the relationship between: normal genes and functional proteins, mutated abnormal genes, abnormal function. Archibald garrod studied patients with metabolic defects such as alkaptonuria. I(cid:374)herited disease i(cid:374) (cid:449)hi(cid:272)h patie(cid:374)t"s (cid:271)ody a(cid:272)(cid:272)u(cid:373)ulates a(cid:271)(cid:374)or(cid:373)al le(cid:448)els of ho(cid:373)oge(cid:374)tisi(cid:272) acid (alkapton) In 1908, garrod proposed a relationship between inheritance of a mutant gene, a missing or defective enzyme, and a metabolic disease. Called this an inborn error of metabolism. 1908 archibald garrod proposed a relationship between inheritance of a mutant gene or defective enzyme and a metabolic disease. Proposed relationship between genes and the production of enzymes. Studied patients with metabolic defects such as alkaptonuria: accumulation of abnormal levels of homogenistic acids (alkapton)
