乙醇脱氢酶4（ADH4）基因位点的13个单核苷酸多态性（SNP）。

Thirteen single-nucleotide polymorphisms (SNPs) in the alcohol dehydrogenase 4 (ADH4) gene locus.

作者信息

Iida Aritoshi, Saito Susumu, Sekine Akihiro, Kondo Kimie, Mishima Chihiro, Kitamura Yuri, Harigae Satoko, Osawa Saori, Nakamura Yusuke

机构信息

RIKEN SNP Research Center, Institute of Medical Science, The University of Tokyo, Japan.

出版信息

J Hum Genet. 2002;47(2):74-6. doi: 10.1007/s100380200003.

DOI:10.1007/s100380200003

PMID:11916005

Abstract

The human alcohol dehydrogenase 4 (ADH4) gene encodes the class II ADH4 pi subunit, which contributes to the metabolization of a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Here we report the results of systematic screening for single-nucleotide polymorphisms (SNPs) in the ADH4 gene by means of direct sequencing combined with a polymerase chain reaction method. A total of 16 genetic variations including 13 SNPs were found; 4 in the 5' flanking region, 4 in the 5' untranslated region, and 8 within introns. No variation was found in coding, 3' untranslated, or 3' flanking regions. Eight of the 13 SNPs were not reported in the NCBI dbSNP database or any previous publications. Our SNP map presented here should provide tools to evaluate the role of ADH4 in complex genetic diseases and a variety of pharmacogenetic effects.

摘要

人类乙醇脱氢酶4（ADH4）基因编码II类ADH4π亚基，该亚基有助于多种底物的代谢，包括乙醇、视黄醇、其他脂肪醇、羟基类固醇和脂质过氧化产物。在此，我们报告了通过直接测序结合聚合酶链反应方法对ADH4基因中的单核苷酸多态性（SNP）进行系统筛选的结果。共发现16个基因变异，包括13个SNP；5'侧翼区域有4个，5'非翻译区域有4个，内含子中有8个。在编码区、3'非翻译区或3'侧翼区域未发现变异。13个SNP中的8个未在NCBI dbSNP数据库或任何先前的出版物中报道。我们在此展示的SNP图谱应为评估ADH4在复杂遗传疾病和各种药物遗传学效应中的作用提供工具。