eNOS基因G894T突变位点与缺血性脑卒中的关系

Relationship between eNOS gene G894T mutation and ischemic stroke

目的 为了了解内皮型一氧化氮合成酶 (eNOS)基因G894T突变位点与中国人群缺血性脑卒中之间的关系。方法 我们利用PCR和分子杂交技术对北京地区 2 94例缺血性脑卒中患者及 2 80例非卒中对照的eNOS基因G894T突变位点进行了检测和分析。结果 G894T位点在两组人群中的分布均符合Hardy -Weinberg遗传平衡定律 ,但该位点基因型频率及等位基因频率在两组人群中分布无差异。结论 eNOS基因G894T突变不是中国人群缺血性脑卒中发病的遗传学危险因素。

Objective To evaluate the relationship between the endothelial nitric oxide synthase (eNOS) gene G894T mutation and the ischemic stroke in Chinese population.Methods The G894T mutation of 294 patients with ischemic stroke and 280 controls without stroke was determined by polymerase chain reaction (PCR) and corresponding probe hybridization.Results Showed that the G894T mutation was in agreement with Hardy-Weinberg equilibrium in either cases or controls.But neiter the prevalence rates of G894T genotypes nor 894T allele frequency was significantly different between these two groups. Conclusion This suggests that the G894T mutation of eNOS gene cannot be a genetic risk of ischemic stroke in Chinese population. [