汉族人群凝血因子XIII Val34Leu多态性与动脉血栓性疾病的关系

Association between polymorphism of coagulation factor XIII Val34Leu and ischemi c arterial thrombotic diseases in Han population

目的:探索凝血因子XIIIVal34Leu多态性与汉族人群缺血性心、脑血管疾病的关系。方法:2002-06/2003-12深圳市宝安人民医院神经内科及心内科,采用PCR扩增112例脑梗死、63例心肌梗死患者及130例正常人的凝血因子XIIIVal34Leu突变点,经Hin6I酶切消化后行3%琼脂糖凝胶电泳确定基因型。结果:在脑梗死组中发现4例(3.6%)Val34Leu杂合子,心肌梗死组未发现Val34Leu突变,正常对照组发现2例(1.5%)Val34Leu杂合子。正常汉族人群Leu34等位基因频率(0.8%)较白种人(27%)低;凝血因子XIIIVal34Leu的各基因型频率在患者组与正常对照组之间的差异无显著性意义。结论:凝血因子XIIIVal34Leu基因变异存在一定的人种或地域差异;凝血因子XIIIVal34Leu基因变异不足以成为汉族人群缺血性心、脑血管疾病的保护性遗传因素。

AIM:To study the relation between coagulation factor XIII(F XIII) Val34Leu pol ymorphism and the ischemic cardiovascular or cerebrovasclar diseases in Han popu lation. METHODS:XIII Val34Leu mutation were amplified by polymerase chain reaction(PCR ) restriction fragment length polymorphis(RFLP) in 112 patients with cerebral i nfarction,63 with myocardial infarction and 130 healthy controls in the Departme nts of Neurology and Cardiology,Baoan People's Hospital of Shenzhen from June 20 02 to December 2003.The genotype was assayed with 3%agarose gel electrophoresis following Hin6 I enzyme digestion. RESULTS:Four cases of Val34Leu heterozygote(3.6%)was found in the cerebral i nfarction group,0 in the myocardial infarction group, and 2(1.5%)in the control group. The gene frequency of Leu34 allele was 0.8%for normal Han population, w hich was lower than that of white people(27%).There were no significant differe nces in various gene frequencies of FXIII Val34Leu between the patient and contr ol groups. CONCLUSION:Gene mutation of Val34Leu polymorphism has some differences in race s or geographic regions, which is not a protective factor for ischemic cardiovas cular and cerebrovascular disease in Han population.