急性酒精中毒患者儿茶酚氧位甲基化转移酶基因多态性分析

Polymorphism Analysis of Catechol Methyltransferase Gene in Patients with Acute Alcoholism

目的:分析急性酒精中毒患者儿茶酚氧位甲基化转移酶COMT rs4680基因多态性。方法:针对COMT rs4680位点设计内外两对引物,建立两对交叉引物-聚合酶链反应(PCR-CTPP)检测体系,经过PCR扩增,通过琼脂糖凝胶电泳鉴别基因型,最后将该结果与基因测序结果比较,验证其准确性,并通过该方法检测288例急性酒精中毒患者(急性酒精中毒组)和348例健康对照人群(健康对照组)COMT基因型,分析COMT rs4680基因多态性与急性酒精中毒的关系。结果:COMT rs4680有GG型、AG型、AA型三种基因型,且PCR-CTPP方法可以准确检测COMT rs4680基因多态性;与健康对照组比较,急性酒精中毒组AA型检出率明显升高(P<0.05),但两组G、A两种等位基因频率差异无统计学意义(P>0.05)。结论:PCR-CTPP可成功鉴别COMT rs4680三种基因型,AA型可能是急性酒精中毒发生的高危因素之一。

Objective：To establish polymerase chain reaction with confronting two-pair primers（PCR-CTPP）detection system and to analyze the polymorphism of COMT rs4680 in patients with acute alcoholism.Method：According to the COMT rs4680 site two pairs of primers were designed,then by PCR and agarose gel electrophoresis three genotypes were identified,which were compared with the Sanger sequencing results,as so to verify the accuracy of the method.The relationship between rs4680 and acute alcoholism through the detection of 288 cases of acute alcohol poisoning patients and 348 healthy controls of COMT genotypes was aralyzed.Results：The PCR-CTPP method can be used to detect the polymorphism of COMTrs4680 gene accurately.In acute alcoholism and healthy controls,there was a significant difference of AA genotype in the two groups（P〈0.05）,but there was no statistically significant difference between the two alleles of G and A in the two groups（P〈0.05）.Conclusion：PCR-CTPP can successfully identify the genotypes of COMT rs4680,and AA genotype may be a risk factor of acute alcoholism.