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[目的]探讨延边地区朝鲜族及汉族男性乙醛脱氢酶2(ALDH2)基因型和等位基因频率及其与酒精性肝病的关系.[方法]采用聚合酶链式反应-限制性片段长度多态(PCR-RPLP)方法测定延边地区朝鲜族及汉族男性健康对照组(朝鲜族为30名,汉族为20名),酒精依赖组(朝鲜族为30名,汉族为15名)和酒精性肝病组(朝鲜族为30名,汉族为15名)中ALDH2单核苷酸基因多态性,计算和比较各组基因型和等位基因的频率.[结果]ALDH2*1/1基因型频率在朝鲜族及汉族男性酒精依赖组(83.3%,86.7%)和酒精性肝病组(90.0%,88.9%)中分别明显高于朝鲜族及汉族男性健康对照组(36.7%,40.0%)(P<0.05,P<0.01);ALDH2*1等位基因频率在朝鲜族及汉族男性酒精依赖组(91.6%,93.3%)和酒精性肝病组(95.0%,94.4%)中分别显著高于朝鲜族及汉族男性健康对照组(63.4%,65.0%)(P<0.05,P<0.01);在各组中朝鲜族和汉族男性的ALDH2基因型频率和等位基因频率间差异均无统计学意义(P>0.05).[结论]ALDH2基因多态性在朝鲜族及汉族男性中的分布无差异,而ALDH2*1基因型可能是延边地区朝鲜族及汉族男性酒精依赖与酒精性肝病的危险因素.
[Objective] To investigate the association between genotype and allele of ALDH2 and alcoholic liver disease in Korean and Han nationality in Yanbian area. [Methods] Polymerase chain reaction-restriction fragment length PCR-RPLP method was used to test the health status of Korean and Han nationality healthy controls in Yanbian (30 ethnic Koreans and 20 Han nationality), alcohol dependence group (30 ethnic Koreans and 15 Han nationality) and alcoholic ALDH2 single nucleotide polymorphisms in liver disease group (30 Koreans and 15 Han nationality) were calculated and compared with each other. [Results] The frequency of ALDH2 * 1/1 genotype (83.3%, 86.7%) and alcoholic liver disease group (90.0%, 88.9%) were significantly higher than those in Han and Han male controls (36.7% and 40.0%, P <0.01, P <0.01). The frequency of ALDH2 * 1 allele was significantly higher in ethnic Han and Han alcohol dependency groups (91.6%, 93.3%) and alcoholic liver disease group (95.0%, 94.4% And Han controls (63.4%, 65.0%, respectively) (P <0.05, P <0.01). In both groups, the frequency of ALDH2 genotypes and allele frequencies among Korean and Han males (P> 0.05). [Conclusion] There is no difference in the distribution of ALDH2 gene among Korean and Han males, while the ALDH2 * 1 genotype may be related to the alcohol dependency of Han and Han nationality in Yanbian area Risk factors for alcoholic liver disease.