GSTM1和GSTM3基因多态性在广东省部分地区健康人群中分布及其基因连锁分析

目的 了解谷胱甘肽-S-转移酶M1和M3(GSTM1、GSTM3)基因多态性在目标人群中分布规律,探索两基因分布之间的联系及其与人群家族史之间的相关关系.方法 应用聚合酶链式反应-2%琼脂糖凝胶电泳、聚合酶链式反应-12%聚丙烯酰胺凝胶电泳的方法检测广东省部分地区606例调查对象的GSTM1、GSTM3基因型.结果 在调查人群中GSTM1(-)基因型的出现频率为56.8%(339/597);调查对象中GSTM3野生纯合子*A-*A、杂合子*A-*B、突变纯合子*B-*B出现的频率分别为62.3%(335/570)、25.8%(147/570)、11.9%(681/570).GSTM1和GSTM3不同基因型在人群中的联合表达有统计学意义(P＜0.05).有冠心病家族史的个体具有GSTM3*B-*B基因型的概率较低(P＜0.05).结论 GSTM1与GSTM3基因在被调查人群中分布有连锁现象;人群中GSTM3*B-*B基因型的表达与人群冠心病家族史之间有统计学关联.

Distribution of Polymorphisms and Linkage of GSTM1 and GSTM3 Genes in Healthy Cantonese in Southern China

Objective To determine the prevalence of the polymorphisms of GSTM1 and GSTM3 genes in target population in Guangdong province and to investigate the linkage between the two genes and their association with the family history distribution of the target population. Methods Polymerase chain reaction-restriction (PCR)-2% agarose gel electrophoresis and PCR-12% PAGE electrophoresis approaches were employed to detect the genotype of the GSTM1 and GSTM3. The data was analyzed with SPSS10.0 software. Results The frequency of GSTM1(-) genotype was 56.8%(n=597). The frequency of genotype of GSTM3*A-*A,*A-*B,*B-*B were 62.3%,25.8%,11.9% respectively. Conclusion A linkage between the GSTM1 and GSTM3 gene is showed in the present paper. The analysis of logistic regression shows that the expression of homozygote for GSTM3*B-*B gene is correlated with the family history of coronary heart disease in the target population.