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[乙醇脱氢酶和乙醛脱氢酶的基因型及其对酒精敏感性的意义]

[Genotypes of alcohol dehydrogenase and aldehyde dehydrogenase and their significance for alcohol sensitivity].

作者信息

Shibuya A

机构信息

Department of Internal Medicine, Kitasato University, School of Medicine.

出版信息

Nihon Rinsho. 1993 Feb;51(2):394-9.

PMID:8464153
Abstract

Genotypes of alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) loci were determined, using allele specific oligonucleotides. Gene frequencies of ADH2(1) and ADH2(2) were 0.29 and 0.71, respectively, in the Japanese control group. No significant difference was found in the ADH2 genotype between the patients and the control group. Gene frequency of ALDH2(1) and ALDH2(2) were 0.65 and 0.35 in the control group, while 0.93 and 0.07, respectively in the patient group. Most of the patients, 20 out of 23, were homozygous Caucasian type. All individuals with homozygous atypical ALDH2(2)/ALDH2(2) and most of those with heterozygous atypical ALDH2(1)/ALDH2(1) were alcohol flushers, while all of the usual ALDH2(1)/ALDH2(1) were nonflushers. The results indicate that Japanese with the atypical ALDH2(2) allele are at a much lower risk in developing alcoholic liver disease than those with usual ALDH2(1)/ALDH2(1), presumably due to their sensitivity to alcohol intoxication.

摘要

采用等位基因特异性寡核苷酸法测定了乙醇脱氢酶(ADH)和乙醛脱氢酶(ALDH)基因座的基因型。在日本对照组中,ADH2(1)和ADH2(2)的基因频率分别为0.29和0.71。患者组和对照组的ADH2基因型无显著差异。对照组中ALDH2(1)和ALDH2(2)的基因频率分别为0.65和0.35,而患者组中分别为0.93和0.07。23名患者中的大多数(20名)为纯合子白种人类型。所有纯合子非典型ALDH2(2)/ALDH2(2)个体以及大多数杂合子非典型ALDH2(1)/ALDH2(1)个体均为酒精脸红者,而所有常见的ALDH2(1)/ALDH2(1)个体均为非脸红者。结果表明,具有非典型ALDH2(2)等位基因的日本人患酒精性肝病的风险远低于具有常见ALDH2(1)/ALDH2(1)的日本人,这可能是由于他们对酒精中毒敏感。

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