凝血酶原G20210A基因多态性与脑卒中的关系

目的　探讨凝血酶原 (FⅡ )G2 0 2 10A基因多态性与脑卒中的关系。方法　收集脑卒中患者 30 0例 (脑卒中组 )和性别、年龄相匹配的未患脑卒中的健康人或医院内其他与脑血管无关的患者 30 0例 (对照组 ) ,采用聚合酶链反应 限制性片段多态性 (PCR RFLP)方法进行 2 0 2 10G→A变异的分析。结果　FⅡ 2 0 2 10G→A变异 ,脑卒中组2 0 2 10A纯合子为 2例 ,2 0 2 10GA杂合子为 13例 ,对照组无 2 0 2 10A纯合子 ,2 0 2 10GA杂合子为 6例。脑卒中组FⅡ2 0 2 10G→A突变率为 5 % ,对照组突变率为 2 % ,结果显示两组G2 0 2 10A差异有显著性意义 (P =0 .0 0 3)。OR =3,95 %CI:1.0 6～ 4 .94。脑梗死组 2 0 2 10A纯合子为 2例 ,2 0 2 10GA杂合子 11例 ,脑出血组 2 0 2 10GA杂合子为 2例 ,无2 0 2 10A纯合子。脑梗死组FⅡ基因 2 0 2 10G→A突变率为 6 .5 % ,脑出血组突变率为 2 % ,脑梗死组 2 0 2 10A。基因频率为 3.75 % ,脑出血 2 0 2 10A基因频率为 1% ,两组差异有显著性意义 (P <0 .0 5 )。 2 0 2 10G→A突变脑梗死组与对照组比较差异有显著性意义 (P <0 .0 5 ) ,脑出血组与对照组比较差异无显著性意义 (P >0 .0 5 )。结论　FⅡ 2 0 2 10位G→A的突变与脑梗死的发生有关 ,与脑出血关系不明显。

Relationship between polymorphism of prothrombin G20210A gene and stroke

Objective To explore the relationship between polymorphism of prothrombin gene and stroke.Methods 300 patients with stroke and 300 subjects in control group without clinical evidence of cerebrovascular disease or cardiovascular disease were analyzed for their genotype frequencies of dimorphism of the G20210A transition in the prothrombin gene. PCR-RFLP was used to analyze polymorphism of the G20210A FII gene.Results The G20210A transition in the FII gene was found in 15 of 300 patients with stroke (5%) and in 6 of 300 healthy control subjects(2%). This difference was statistically significant (P=0.003). The G20210A transition increased the relative risk for stroke by 3 folds (odds ratio 3; 95% CI 1.06～4.94). The G20210A transition in the FII gene was found in 13 of 200 patients with ischemic stroke (6.5%),which was different from the prevalence in the group of healthy blood donors, P<0.05 and in 2 of 100 patients in the group of haemorrhagic stroke patients (2%),which corresponded to the prevalence in the group of healthy blood donors, P>0.05.Conclusion The present study demonstrates that FII G20210A dimorphism in the 3'-untranslated region of the prothrombin gene is closely related to ischemic stroke but not hemorrhagic stroke, suggesting that this G20210A transition is an inherited risk factor for ischemic stroke but not haemorrhagic stroke.