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目的:探讨人凝血因子XA亚单位(FX-A)Val34Leu基因多态性与原发性脑出血的关系。方法:应用聚合酶链反应和限制性片断长度多态性技术,对80例原发性脑出血患者及80例健康对照者FX-A第2号外显子Val34Leu基因多态性进行检测。结果:脑出血组发现FX-ALeu34/Leu34纯合子型和Val34/Leu34杂合子型各1例,对照组未发现Leu34多态性。脑出血组Leu34等位基因频率与对照组比较无明显差异(P>0.05)。结论:FX-AVal34Leu基因多态性在广西人群中的分布频率极低;FX-AVal34Leu基因多态性可能与脑出血无关。
Objective: To investigate the relationship between polymorphism of Val34Leu gene and primary cerebral hemorrhage in human coagulation factor XA subunit (FX-A). Methods: Polymerase chain reaction and restriction fragment length polymorphism were used to detect the Val34Leu polymorphism of FX-A exon 2 in 80 patients with primary cerebral hemorrhage and 80 healthy controls. Results: One case of FX-ALeu34 / Leu34 homozygote and one Val34 / Leu34 heterozygote was found in cerebral hemorrhage group. No Leu34 polymorphism was found in the control group. There was no significant difference in Leu34 allele frequency between cerebral hemorrhage group and control group (P> 0.05). CONCLUSION: The frequency of FX-AVal34Leu gene polymorphism in Guangxi population is extremely low. The polymorphism of FX-AVal34Leu gene may not be related to cerebral hemorrhage.