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Noting that normal homozygous wild type aa and

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Unformatted text preview: le and Tatum's notion that our morphological AKU phenotype is the result of our biochemical phenotype (page 124 in the text). phenotype ­ In normal patients, homogentisic (which does not turn black in air) is converted to In does maleylacetoacetate by the pathway shown above. ­ Noting that normal (homozygous wild type; AA) and carriers of the disease Noting AA and (heterozygotes; Aa) had the same phenotype, (i.e., normal urine), Garrod Aa had proposed that AKU was due to the complete absence of the Hgo gene in complete Hgo homozygous recessive individuals (aa). Heterozygous individuals expressed homozygous ). enough of the enzyme from the one normal allele to convert homogentisic acid to maleylacetoacetate. 02/12/14 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez ©2013 BIS101­001, Spring 2013—Genes and Gene Expression, R.L. Rodriguez 10 The alkaptonuria gene (HGO) and its mutations ­ In 1996, researchers cloned a human gene encoding the enzyme homogentisate 1,2 In...
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