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目的为预防酒精相关性疾病发生，调查了酒精代谢酶控制基因在日本双生子中的分布。方法以饱和酚法提取ＤＮＡ，应用限制性片段长度多态性分析技术检测了９２个日本双生子的酒精脱氢酶２（ＡＤＨ２）和乙醛脱氢酶２（ＡＬＤＨ２）基因型，根据基因型差异筛选敏感个体。结果ＡＤＨ２和ＡＬＤＨ２基因分布符合Ｈａｒｄｙｗｅｉｎｂｅｒｇ等式。ＡＤＨ２基因的３种基因型分别是ＡＤＨ２１／ＡＤＨ２１（１．１％）、ＡＤＨ２１／ＡＤＨ２２（４４．６％）和ＡＤＨ２２／ＡＤＨ２２（５４．３％）。ＡＬＤＨ２的基因型分别为ＡＬＤＨ２１／ＡＬＤＨ２１（４１．３％）、ＡＬＤＨ２１／ＡＬＤＨ２２（３９．１％）和ＡＬＤＨ２２／ＡＬＤＨ２２（１９６％）。ＡＤＨ２和ＡＬＤＨ２基因频率分别为０．２５５、０．７４５和０６０９、０３９１。结论异常纯合的ＡＤＨ２基因和纯合的ＡＬＤＨ２基因占优势。个体携有ＡＤＨ２１／ＡＤＨ２２和ＡＬＤＨ２１／ＡＬＤＨ２１、ＡＤＨ２２／ＡＤＨ２２和ＡＬＤＨ２１／ＡＬＤＨ２１者可视为敏感个体。
Objective To prevent the occurrence of alcohol related diseases and to investigate the distribution of alcohol metabolism enzyme control genes in Japanese twins. Methods DNA was extracted by saturated phenol method. The genotypes of alcohol dehydrogenase 2 (ADH2) and aldehyde dehydrogenase 2 (ALDH2) in 92 Japanese twins were detected by restriction fragment length polymorphism (PCR-RFLP) Differentially screen sensitive individuals. Results The distribution of ADH2 and ALDH2 genes conformed to the Hardy-Weinberg equation. The three genotypes of ADH2 were ADH21 / ADH21 (1.1%), ADH21 / ADH22 (44.6%) and ADH22 / ADH22 (54.3%), respectively. The genotypes of ALDH2 were ALDH21 / ALDH21 (41.3%), ALDH21 / ALDH22 (39.1%) and ALDH22 / ALDH22 (19.6%), respectively. ADH2 and ALDH2 gene frequencies were 0.255,0.745 and 0,609,0391. Conclusion Abnormal homozygous ADH2 gene and homozygous ALDH2 gene predominate. Individuals with ADH21 / ADH22 and ALDH21 / ALDH21, ADH22 / ADH22 and ALDH21 / ALDH21 are considered as sensitive individuals.