摘要： 亚洲人群中普遍存在突变型的乙醛脱氢酶2（ALDH2*2）。此酶突变后活性缺失，导致乙醛在肝脏内大量累积使突变携带者在喝酒后会有脸红等不适反应，因此这可能影响他们的饮酒行为。由于ALDH2*2等位基因与饮酒行为相关，它也可能与酒精引起的肝脏损伤及某些癌症密切相关，而且，它在不同的亚洲人群中有不同的频率分布。近年来对ALDH2*2等位基因的序列结构、表达及其重要功能等有了更深入的了解，对ALDH2的多态性在研究方法、研究群体分布范围等都有很大进展。本文还讨论了不同地理分布、不同年龄结构、性别差异条件下，中国人群中ALDH2基因型频率与饮酒行为的关系。 Abstract: An atypical allele （ALDH2*2） in low Km aldehyde dehydrogenase (ALDH2), which is highly prevalent in Asian, may influence drinking behavior because of higher production of acetaldehyde in the liver. High alcohol sensitivity such as flushing after drinking has been shown to be mainly due to the atypical ALDH2 genotypes. The atypical allele is associated with alcohol-induced liver injury and some cancers. Recently, the researches on the polymorphisms not only in the gene itself but also its frequencies in different Asian populations have been made great progress. Three factors, including different sex, age and geography, were also analyzed with the genotypes of ALDH2 in Chinese populations.