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目的 了解乙醇脱氢酶 2 (ADH2)基因型和乙醛脱氢酶 2 (ALDH2)基因型的分布情况,为筛选高危敏感个体和采取预防措施以减少酒精相关性疾病的发生提供理论基础。方法 问卷调查筛选出居住在四川省的无直接血缘关系的汉族健康个体 201人(男 104人,女 97人 )、采集血样并搜集饮酒行为资料;聚合酶链式反应 限制性片段长度多态性方法测定ADH2、ALDH2基因型。结果 杂合型ADH2与纯合型ALDH2在中国汉族正常人口中占优势(分别为 53. 23%, 68 .16% ); 9种ADH2、ALDH2基因型组合的分布间差异无统计学意义;纯合型ALDH2在具高、中饮酒频率男性中的分布间差异有统计学意义。结论 汉族正常人口中携带酒精相关性疾病易感基因型个体占多数(68. 16% ),应加强监测与预防酒精相关性疾病的工作。
Objective To understand the distribution of ADH2 and ALDH2 genotypes and provide theoretical basis for screening high risk individuals and taking preventive measures to reduce the incidence of alcohol related diseases. Methods A total of 201 healthy Han individuals (104 males and 97 females) without direct kinship in Sichuan Province were screened by questionnaire. Blood samples were collected and alcohol drinking behaviors were collected. Restriction fragment length polymorphism (PCR) Methods The genotypes of ADH2 and ALDH2 were determined. Results Heterozygous ADH2 and homozygous ALDH2 were predominant in the normal population of Han Chinese (53.23% and 68.16%, respectively). There was no significant difference in the distribution of 9 ADH2 and ALDH2 genotypes between the two groups There was a significant difference in the distribution of occluder ALDH2 in men with high and medium drinking frequency. Conclusions The majority of Han nationality population with susceptibility to alcohol-related diseases carry the majority (68.16%), and the monitoring and prevention of alcohol-related diseases should be strengthened.