Blum K, Noble E P, Sheridan P J, Montgomery A, Ritchie T, Jagadeeswaran P, Nogami H, Briggs A H, Cohn J B
Department of Pharmacology, University of Texas Health Science Center, San Antonio 78284.
JAMA. 1990 Apr 18;263(15):2055-60.
In a blinded experiment, we report the first allelic association of the dopamine D2 receptor gene in alcoholism. From 70 brain samples of alcoholics and nonalcoholics, DNA was digested with restriction endonucleases and probed with a clone that contained the entire 3' coding exon, the polyadenylation signal, and approximately 16.4 kilobases of noncoding 3' sequence of the human dopamine D2 receptor gene (lambda hD2G1). In the present samples, the presence of A1 allele of the dopamine D2 receptor gene correctly classified 77% of alcoholics, and its absence classified 72% of nonalcoholics. The polymorphic pattern of this receptor gene suggests that a gene that confers susceptibility to at least one form of alcoholism is located on the q22-q23 region of chromosome 11.
在一项双盲实验中，我们报告了多巴胺D2受体基因与酒精中毒的首个等位基因关联。从70份酗酒者和非酗酒者的脑样本中提取DNA，用限制性内切酶进行消化，并用一个包含人类多巴胺D2受体基因整个3'编码外显子、聚腺苷酸化信号以及约16.4千碱基的非编码3'序列的克隆体（λhD2G1）进行探测。在当前样本中，多巴胺D2受体基因A1等位基因的存在正确地将77%的酗酒者分类，其不存在则将72%的非酗酒者分类。该受体基因的多态性模式表明，一个赋予至少一种酒精中毒易感性的基因位于11号染色体的q22 - q23区域。
