目的 了解单胺氧化酶 A( M A O A) 基因多态性在汉族酒依赖高发家系和对照家系中的分布特点及对酒依赖发病的影响.方法 采用美国酒依赖遗传研究协作组的半定式酒依赖遗传学评定量表,按入组标准筛选出9 个酒依赖高发家系49 名成年个体( 其中有酒依赖患者23 例) 及8 个对照家系45 名成年个体.采用多聚酶链式反应和限制性片段长度多态性 ECO R V 酶切法检测 M A O A 基因.结果 酒依赖高发家系与对照家系间 M A O A 等位基因频率差异有非常显著性( P＜ 001 , O R＝237) ,其中酒依赖高发家系的全部男性与对照家系男性相比, P＜ 005 ; O R＝ 256 ;酒依赖高发家系中非酒依赖男性与对照家系男性相比, P＜ 001 , O R＝ 526 .酒依赖高发家系中全部女性与对照家系女性相比差异无显著性( P＞ 005) .结论 M A O A 基因( ECO R V) 位点多态性对酒依赖高发家系的发生有一定影响.“,”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