酒精代谢关键酶乙醛脱氢酶2基因分型方法研究进展

Progress on genotyping methods of alcohol metabolism enzyme aldehyde dehydrogenase 2

乙醛脱氢酶2是催化酒精代谢中间产物乙醛氧化分解的关键酶,其基因ALDH2存在一个重要的功能性多态位点Glu487Lys,突变型等位基因记为ALDH2*2。中国人群有较高频率的个体携带ALDH2*2,其乙醛脱氢酶2活性极低或者缺失,饮酒后容易造成致毒、致癌的乙醛滞留。检测ALDH2基因型,能够指导人们根据自己的基因型正确饮酒,减少酒精相关性疾病的发生。本文介绍几种乙醛脱氢酶2基因分型方法。

Acetaldehyde is the intermediate of alcohol metabolism, and aldehyde dehydrogenase 2 （ALDH2） is an important enzyme in the acetaldehyde decomposition. There is a polymorphic loci Glu487Lys in ALDH2,in which the mutant allele is denoted as ALDH2 ＊ 2. Chinese population have a high frequency of ALDH2 ＊ 2, which activity is losing or extremely low, and it is likely to cause the acetaldehyde retention which is poisonous and carcinogenic. Detection of ALDH2 genotype can lead people to drink appropriately based on their genotypes, and can reduce the incidence of alcohol-related diseases. Several genotyping methods of ALDH2 are reviewed in this paper.