LS4_14_1gene1enzyme

LS4_14_1gene1enzyme - Biochemical Genetics One gene One...

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Biochemical Genetics Chapter 7 p.224-231 Problems: 28 – 30, 31a,b,d, 32 - 33 One gene One Enzyme (Polypeptide)
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Discovering Genetic Disease • First clue came in 1902 from Archibald Garrod, an English physician who studied the rare disease alkaptonuria (AKU) . • Those affected produce black urine…. The urine oxidizes upon exposure to air, causing it to turn black.
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• Garrod noticed that most of his patients were the offspring of first cousins. • He proposed that this disease, as with others such as albinism, are associated with heritable defects in specific enzymes which he called “inborn errors of metabolism.” Discovering Genetic Disease
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Phe Metabolic Pathway • Many other conditions arise from defects in this pathway, which is for degradation of phenylalanine and conversion of tyrosine to other compounds.
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• Today PKU patients are diagnosed at birth and treated through diet. Genes synthesize the enzymes
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• Tried for 6 years (1935-1941) to link genes to chemical reactions in Drosophila. • Switched to a simpler organism: Neurospora crassa (bread mold) • Irradiated and isolated many arginine auxotrophs.
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This note was uploaded on 03/28/2011 for the course LS 4 taught by Professor Ribaya during the Spring '08 term at UCLA.

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LS4_14_1gene1enzyme - Biochemical Genetics One gene One...

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