中国南北方冠心病患者TM1418位C/T多态性研究及对比分析

Contrast analyze of gene polymorphism of thrombomodulin 1418C/T in patients with coronary heart disease of Chinese northern and southern

目的:研究我国南北方冠心病患者血栓调节蛋白(TM)基因1418位C/T多态性是否存在差异及其与冠心病发病的关系。方法:应用突变特异性扩增系统(ARMS)技术检测71例云南昆明冠心病患者和100例河南郑州冠心病患者的TM基因1418位C/T多态性。结果:TM基因1418位T/T、T/C型及C/C型频率在南方冠心病组中分别为11.27%、61.97%、26.76%,北方冠心病组分别为10.00%、37.00%、53.00%。北方冠心病组TM基因1418位CC型明显高于南方冠心病组(P<0.05)。C等位基因频率在南方与北方冠心病组中分别为57.75%和71.50%,C等位基因频率北方明显高于南方(P<0.05)。结论:血栓调节蛋白(TM)基因1418位C/T多态性与北方冠心病发病密切相关,TM基因1418位点突变产生的C/C纯合子可能是引起北方冠心病的一个重要的遗传危险因素。

Objective：To study the coronary artery disease research at the thrombus regulatory protein（TM） gene 1418 a C/T polymorphism whether there was difference and its relationship with the onset of coronary heart disease.Methods：Used the application specific amplification system（mutations ARMS） technology to detect the TM gene 1418 a C/T polymorphism in 71 cases with coronary artery disease of Yunnan Kunming and 100 cases with coronary artery disease of Henan Zhengzhou.Results：TM gene 1418 a T/T,T/C and C/C frequency in the south of CHD group respective were 11.27%,61.97%,26.76%,the north of coronary heart disease respective were 10.00%,37.00% and 53.00%.The north of coronary heart disease TM 1418 a CC type gene was obviously higher than that of the south CHD group（P〈0.05）.C allele frequency in the south and the north of coronary heart disease of 57.75% and 71.50%,respectively,C allele frequency was higher than the north south（P〈0.05）.Conclusion：Blood clots regulatory protein（TM） gene 1418 a C/T polymorphism and the north are closely related to the coronary heart disease,TM gene mutations of 1418 sites have C/C homozygous may be caused by the north of coronary heart disease a important genetic risk factors.