多巴胺D_2受体基因的一种短串联重复多态性与汉族酒依赖相关的家系对照研究

了解多巴胺Ｄ２受体基因多态性在大陆汉族人群中的分布及其与家族聚集性酒依赖发病的关系。采用国际酒依赖遗传学研究协作组织（ＣＯＧＡ）提供的半构式酒依赖遗传学评定量表（ＳＳＡＧＡ），按照ＩＣＤ－１０和ＤＳＭ－Ⅲ－Ｒ的诊断标准，筛选出酒依赖家系９个，其４６个成年个体中有２１个酒依赖患者，每个家系至少含有两个酒依赖患者；对照家系８个，含４５个成年个体但无一例酒依赖患者。使用同位素掺入聚合酶链式反应（ＰＣＲ）结合聚丙烯酰胺凝胶电泳分离加放射自显影方法对位于多巴胺Ｄ２受体基因位点上的短串联重复基因多态进行了检测。多巴胺Ｄ２受体微卫星重复等位基因，特别是（ＣＡ）１５，在酒依赖家系中的分布与对照有明显的差异。ＤＲＤ２基因多态分布与酒依赖患病相关，但二者之间的连锁未得到支持，其机理需进一步深入研究。

A SHORT TANDEM REPEAT POLYMORPHISM OF DOPAMINE D2 RECEPTOR GENE ASSOCIATED WITH ALCOHOLISM IN HAN ALCOHOLIC FAMILIES

To study relationship between DRD2 and alcohol dependence in Han ethnic group.9 high risk alcoholic families and 8 control families in Han population were screened out by using the SemiStructured Assessment for the Genetics of Alcoholism provided by the Collaborative Organization for the Study on the Genetic of Alcoholism. There were 46 adults including 21 alcoholics(at least 2 alcoholics in one family) in high risk alcoholic families and 45 adults in the control families but without any alcoholics.The genotypes of the short tandem repeat polymorphism(STRP) in the locus of DRD2 were determined by the way of isotopelabeled PCR combined polyacrylamide gel electrophoresis.It is found that the distribution of the alleles,especially the (CA)15 allele of DRD2 in the alcoholic families show statistically difference contrasted with that of the controls.It indicates that DRD2 may be involved in Han familyaggregated alcohol dependence,but linkage between DRD2 and alcoholism has not been confirmed so far.The mechanism need to be studied further.