土耳其人群中乙醇脱氢酶3的变异等位基因和基因型

Variant alleles and genotypes of alcohol dehydrogenase 3 in a Turkish population.

作者信息

Kortunay S, Yasar U, Isik T, Bozkurt A, Babaoglu M O

机构信息

Department of Pharmacology, Faculty of Medicine, Pamukkale University, Denizli, Turkey.

出版信息

Methods Find Exp Clin Pharmacol. 2006 May;28(4):229-31. doi: 10.1358/mf.2006.28.4.991716.

DOI:10.1358/mf.2006.28.4.991716

PMID:16801984

Abstract

Alcohol dehydrogenase (ADH) is a genetically polymorphic dimeric enzyme that is responsible for the metabolism of alcohol. ADH3 gene encodes for the gamma subunit of dimeric ADH and has an important role in the function of the enzyme. The aim of this study was to determine the frequencies of ADH3 alleles and genotypes in a healthy Turkish population sample. Genotypic assay was carried out in 102 unrelated volunteers. DNA samples were genotyped for the ADH32 allele. The ADH31 and ADH32 allele frequencies were determined as 0.66 (95% confidence interval [CI] = 0.57-0.75) and 0.34 (95% CI = 0.25-0.43), respectively. The genotype frequencies of ADH31/*1, *1/*2, and *2/*2 were 39% (95% CI = 30-49), 54% (95% CI = 44-64), and 7% (95% CI = 2-12), respectively. According to our results, the frequencies of variant ADH3 alleles and genotypes are similar to that in the other Caucasian populations.

摘要

乙醇脱氢酶（ADH）是一种具有遗传多态性的二聚体酶，负责酒精的代谢。ADH3基因编码二聚体ADH的γ亚基，在该酶的功能中起重要作用。本研究的目的是确定健康土耳其人群样本中ADH3等位基因和基因型的频率。对102名无亲缘关系的志愿者进行了基因分型检测。对DNA样本进行ADH32等位基因的基因分型。ADH31和ADH32等位基因频率分别确定为0.66（95%置信区间[CI]=0.57 - 0.75）和0.34（95%CI = 0.25 - 0.43）。ADH31/*1、*1/2和2/*2的基因型频率分别为39%（95%CI = 30 - 49）、54%（95%CI = 44 - 64）和7%（95%CI = 2 - 12）。根据我们的结果，ADH3变异等位基因和基因型的频率与其他高加索人群相似。