凝血酶原基因3'-UTG20210A变异与中国人种脑血栓病关系及其变异频度研究

Study of relation between the prothrombin gene G20210A variant in the 3'-untranslated region and thrombotic cerebrovascular disease in Chinese and the frequency of the prothrombin gene G20210A variant in the 3'-untranslated region in Chinese

目的了解FG20210A基因变异与中国人脑动脉血栓形成的关系,该基因变异是否脑动脉血栓形成的危险因素及其在中国汉族人种的分布频率。方法49例首发脑动脉血栓形成40～78岁患者及46例健康对照组作为研究对象,进行FG20210A突变分析。结果患者及健康对照组均为FG20210G纯合子。结论中国汉族人脑动脉血栓形成患者中不存在FG20210A变异,FG20210A突变不足以构成脑动脉血栓性疾病的独立危险因素及发病原因。

Objective In order to understand relation between the prothrombin gene G20210A variant in the 3'-untranslated region and cerebral arterial thrombosis disease to determine whether it is the risk factor of cerebral arterial thrombosis disease.The frequency of the prothrombin gene G20210A variant in the 3'-untranslated regionin in Han people of Chinese.Methods We investigated 49 cases of the patients aged from 40 to 78 with cerebral arterial thrombosis disease and 46 cases of health control subjects.The G20210A mutant allele of the prothrombin gene of all blood specimens was studied.Result Patients and health control subjects are all homozygous for the normal G20210G allele.Conclusions FactorⅡ G20210A mutant allele was absent among Chinese patients and FactorⅡ G20210A mutant allele was not a major risk factor and etiological factor for cerebral arterial thrombosis disease in Han people of Chinese.