【摘要】 目的　了解醛脱氢酶 Ａ Ｌ Ｄ Ｈ２ 和醇脱氢酶 Ａ Ｄ Ｈ２ 、 Ａ Ｄ Ｈ３ 基因多态性在中国汉族酒依赖高发家系中的分布特点，研究其对酒依赖发病的影响作用。方法　采用美国酒精中毒遗传学研究协作组织提供的半定式酒精中毒评定量表，以９ 个汉族酒依赖高发家系４９ 个成年个体（ 酒依赖者２３ 例）及与酒依赖高发家系相配对的８ 个正常对照家系４５ 个成员为研究对象，采用 Ｄ Ｎ Ａ 扩增结合等位基因特异性寡核苷酸探针杂交方法，对样本进行 Ａ Ｄ Ｈ２ 、 Ａ Ｄ Ｈ３ 和 Ａ Ｌ Ｄ Ｈ２ 基因多态性检测。结果　酒依赖家系全部成员无论患病与否均为 Ａ Ｌ Ｄ Ｈ２ １ 等位基因纯合子个体；低活性的 Ａ Ｄ Ｈ２ １ 和有活性的 Ａ Ｌ Ｄ Ｈ２ １（ 乙醇堆积乙醛清除型） 等位基因频率在酒依赖家系中高于对照家系成员（ Ｐ＜ ００１） ；控制 Ａ Ｌ Ｄ Ｈ２ 基因的影响因素后， Ａ Ｄ Ｈ２ 基因频率分布的差异显著性仍存在。结论　 Ａ Ｌ Ｄ Ｈ２ １ 等位基因是酒依赖高发家系最主要的风险因素， Ａ Ｄ Ｈ２ １ 基因在酒依赖家系的形成中起一定作用。更多还原

【Abstract】 Objective The purpose of this study was to investigate the characteristics of the polymorphism of ADH2, ADH3 and ALDH2 genes in the high risk alcoholic families of Han ethnic population Methods The 49 members (including 23 alcohol dependents) of 9 alcoholic families, each family consisting at least 2 alcohol dependent adults, and 45 members of 8 control families (without any alcoholics) were identified according to the SSAGA (Semi Structured Assessment for the Genetics of Alcoholism) from the COGA (The Collaborative Organization on the Genetics of Alcoholism) The genotypes and allele frequencies of ADH/ALDH genes were investigated by polymerase chain reaction (PCR) and allele specific oligonucleotide (ASO) hybridization Results All of the members of the alcoholic families were ALDH2*1 homozygous without any ALDH2*2 gene The significant difference of the allele frequency of ALDH2 was observed between the alcoholic and control families ( P < 0 01) The allele frequency of ADH2*1 was more frequent in alcoholic families than control There was no difference in the frequency of ADH3 allele between the alcoholic and control families Conclusions The allele of ALDH2*1 may be an important risk factor And the ADH2 gene may also play a role in high risk alcoholic families in Han ethnic population更多还原