摘要目的利用基因芯片检测乙醇代谢相关酶的单核苷酸多态性(SNPs),并阐明乙醇代谢相关酶基因多态性与酒精性肝病的关系.方法参照"酒精性肝病的诊断依据及治愈、好转标准", 并排除乙型肝炎表面抗原和丙型肝炎抗体阳性者,不典型者做肝穿刺活检,选择165例嗜酒者,其中无肝脏损害的有43例,酒精性肝病122例;正常对照组65例为研究对象.抽取3ml外周血,分离外周血单核细胞,按常规提取DNA,行4重不对称PCR, PCR 产物与寡核苷酸探针微阵列芯片杂交,并扫描分析结果.结果健康对照组、嗜酒者组、无肝脏损害的嗜酒者组和酒精性肝病组的ADH2*1等位基因频率分别为37.69%, 55.76%, 46.51%,59.02%; ADH2*2 等位基因频率相应为62.31%, 44.24%, 53.49%, 40.98%; 未发现ADH2*3型等位基因.嗜酒者和酒精性肝病患者的ADH2*1频率明显高于健康对照,酒精性肝病患者高于无肝脏损害的嗜酒者;无肝脏损害的嗜酒者的ADH3*2频率高于健康对照;嗜酒者和酒精性肝病患者的ALDH2*2等位基因低于健康对照组,酒精性肝病患者ALDH2*2等位基因频率显著低于无肝脏损害的嗜酒者.嗜酒者组未发现ALDH2*2 等位基因的纯合子.结论 ADH2, ADH3,和ALDH2基因多态性将影响国人的饮酒倾向;ADH2*2, ADH3*1, 和 ALDH2*2可能是过量引酒的保护因素,而ADH2*2和ALDH2*2等位基因是酒精性肝病的易患基因.

abstractsObjective To explore the relationship between genetic polymorphisms of the ethanol metabolizing enzymes and the occurrence of alcoholic liver disease (ALD). Methods Sixty-five healthy male controls and 165 alcoholisms (including 122 ALD patients and 43 male alcohol abusers without liver complications defined as alcohol-dependent) were analyzed by polymerase chain reaction and hybridized with oligonucleotide microarray to detect the polymorphisms of the ethanol metabolizing enzymes genes. Were shown as 37.69%, 46.51% and 59.02% in control, alcohol-dependent and alcoholisms (ALD group and alcohol-dependent group) than in healthy controls (P<0.01), and significantly higher in ALD group than in significantly higher in alcohol-dependents than in healthy controls lower in alcoholisms than that in the healthy controls, and the deference between ALD group and alcohol-dependent group was significant. No groups.Conclusions Polymorphic ADH2, ADH3 and ALDH2 genes can affect the propensity for alcohol drinking in Chinese.The alleles of ADH2*2,ADH3*1and ALDH2*2 are most likely to play a rotective role against