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N-乙酰化多态性的分子基因分型以预测表型。

Molecular genotyping of N-acetylation polymorphism to predict phenotype.

作者信息

Mashimo M, Suzuki T, Abe M, Deguchi T

机构信息

Department of Clinical Genetics, Kyushu University, Oita, Japan.

出版信息

Hum Genet. 1992 Sep-Oct;90(1-2):139-43. doi: 10.1007/BF00210758.

Abstract

N-acetylation polymorphism is one of the representative pharmacogenetic traits that underlie interindividual and interethnic differences in response to xenobiotics. To develop a practical genotyping method to predict acetylator phenotype, we studied the conditions for accurate phenotyping, and identified the phenotype in 51 Japanese. Then we performed Southern blot analysis of genomic DNA from these subjects using 32P-labeled cDNA for polymorphic N-acetyltransferase in the liver, and found that four N-acetyltransferase alleles generated six genotypes. The present genotyping method predicted the rapid, intermediate, and slow acetylators correctly in 48 of 51 overall subjects (96%) and in all of 4 slow acetylators.

摘要

N - 乙酰化多态性是导致个体间和种族间对外源化学物反应差异的代表性药物遗传学特征之一。为开发一种实用的基因分型方法来预测乙酰化表型,我们研究了准确表型分析的条件,并对51名日本人的表型进行了鉴定。然后,我们使用肝脏中多态性N - 乙酰转移酶的32P标记cDNA对这些受试者的基因组DNA进行了Southern印迹分析,发现四个N - 乙酰转移酶等位基因产生了六种基因型。目前的基因分型方法在51名受试者中的48名(96%)以及所有4名慢乙酰化者中正确预测了快、中、慢乙酰化者。

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