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- W1551857288 abstract "Abstract Steroid 17 alpha-hydroxylase deficiency is caused by defects in cytochrome P450c17, the single enzyme that has 17-alpha hydroxylase and 17,20-lyase activities. We describe a rapid and efficient polymerase chain reaction tactic for identifying these genetic lesions and identify Ser106----Pro as the cause of 17 alpha-hydroxylase deficiency in two unrelated homozygous patients from Guam. We used site-directed mutagenesis of the normal P450c17 cDNA to construct the Pro106 mutant, and expressed both the normal and mutant sequences in monkey COS-1 cells and in yeast. Expression of the normal sequence permitted the cells to convert pregnenolone to 17-OH pregnenolone, progesterone to 17-OH progesterone, and 17-OH pregnenolone to dehydroepiandrosterone, showing the normal sequence conferred both 17 alpha-hydroxylase and 17,20-lyase activities. Expression of the mutant sequence generated P450c17 mRNA, but conferred none of these activities, proving that the Ser106----Pro mutation abolished the 17 alpha-hydroxylase and 17,20-lyase activities. An HhaI restriction site created by the mutation should permit screening of large populations." @default.
- W1551857288 created "2016-06-24" @default.
- W1551857288 creator A5034071958 @default.
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- W1551857288 date "1991-08-01" @default.
- W1551857288 modified "2023-10-13" @default.
- W1551857288 title "Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency" @default.
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- W1551857288 doi "https://doi.org/10.1016/s0021-9258(18)98506-6" @default.
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