中国南方粤语方言地区汉族人群GSTM1、GSTT1基因多态性

背景与目的:了解谷胱甘肽-S-转移酶M1、T1(GSTM1、GSTT1)基因多态性在中国南方粤语方言地区健康人群中的分布规律,初步探讨其与人群某些疾病家族史之间的关系。材料与方法:根据研究目的在广东省新兴县和广东省广州市两个地区选择符合条件的健康人群606人作为研究对象。应用聚合酶链式反应-2%琼脂糖凝胶电泳的方法检测调查对象GSTM1、GSTT1基因型。结果:在调查人群中,GSTM1基因纯合缺失基因型GSTM1(-/-)的出现频率为56.8%(n=597);GSTT1基因纯合缺失基因型GSTT1(-/-)的出现频率为42.1%(n=579);两基因联合缺失的频率为22.8%(n=570)。结论:GSTM1与GSTT1基因之间在人群中分布相互独立,无连锁现象,GSTM1基因在两个不同地区来源人群中的分布有显著差异。GSTT1在人群中不同基因型的分布与研究人群中冠心病疾病家族史的发生之间显著关联,有冠心病家族史人群GSTT1缺失基因型的表达显著增加。

Distribution of Genetic Polymorphisms of Glutathione S transferase M1 and T1 in Cantonese Speaking Area of Southern China

BACKGROUND & AIM: To investigate the distribution of glutathione -S-transferase M1 and T1 (GSTM1, GSTT1)genetic polymorphisms in Cantonese people of Guangdong Province,and tentative analysis on the relationship between gene polymorphisms and the family history of some diseases. MATERIAL AND METHODS: The healthy population of 606 people in Xinxing county and Guangzhou city in Guangdong province were selected based on the intension of the study. Polymerase chain reaction (PCR)-2% agarose gel electrophoresis was applied to distinguish the genotype of the GSTM1 and GSTT1. RESULTS: The frequencies of homozygote for GSTM1(-/-) (n=597)and GSTT1(-/-)(n=579)were 56.8% and 42.1%, respectively. The frequency of homozygotes for both GSTM1(-/-) and GSTT1(-/-) was 22.8%(n=570). CONCLUSION: There was no linkage between the GSTM1 and GSTT1 genes. The difference of GSTM1 gene distribution in populations from two different areas was significant. The results of chi-square test showed that there was significant correlation between the distribution of GSTT1 genotype and the family history of coronary artery disease among the study population. GSTT1 null genotype was significantly increased in those who had a history of CHD family.