美芬妥因羟化缺乏症的家系研究。
Family studies of mephenytoin hydroxylation deficiency.
作者信息
Inaba T, Jurima M, Kalow W
出版信息
Am J Hum Genet. 1986 May;38(5):768-72.
Abstract
A genetic polymorphism characterized by deficient drug oxidation exists for the hydroxylation of mephenytoin. This deficiency was first recognized in a family study that suggested an autosomal recessive pattern of inheritance. To confirm the observation, we investigated 28 relatives of five poor metabolizers. Subjects ingested 50 mg of mephenytoin, and the 24-hr urine was analyzed for hydroxymephenytoin. The pedigree data shown here provide strong evidence that deficient mephenytoin hydroxylation is an autosomal recessive trait.
摘要
对于美芬妥因的羟基化作用，存在一种以药物氧化缺陷为特征的基因多态性。这种缺陷最初是在一项家族研究中被发现的，该研究提示其为常染色体隐性遗传模式。为证实这一观察结果，我们调查了5名代谢缓慢者的28名亲属。受试者服用50毫克美芬妥因，对其24小时尿液进行羟基美芬妥因分析。此处所示的系谱数据提供了有力证据，表明美芬妥因羟基化缺陷是一种常染色体隐性性状。
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