【摘要】 目的观察凝血因子ⅦR353Q基因多态性在华南汉族人群中的分布及其与脑出血的关系。方法应用聚合酶链反应和限制性内切酶片长多态性技术检测了36例脑出血患者和按年龄、性别、体重、职业、吸烟史、胆固醇、甘油三酯和血糖等因素与脑出血患者配对的36例正常对照者的凝血因子ⅦR353Q基因型,探讨脑出血的发生与因子ⅦR353Q基因型的关系。结果凝血因子ⅦR353Q基因型有RR、RQ和QQ三种,这三种基因型在对照组的分布频率分别是80.5%、16.7%和2.8%;在脑出血组为80.5%和19.5%,未检测到QQ基因型。等位基因R和Q基因频率在在对照组为88.9%和11.1%,在脑出血组为90.3%和9.7%。基因型频率符合Hardy-Weinberg平衡定律。R353Q基因型频率和等位基因频率在脑出血组和对照组之间比较差异均无显著性。结论没有发现凝血因子ⅦR353Q基因多态性与华南汉族脑出血的发生有明显关系。更多还原

【Abstract】 Aim To study the distribution of coagulation factor Ⅶ gene polymorphisms in Chinese Han population and the association of the polymorphisms with brain bleeding.Methods Genotypes of coagulation factor Ⅶ were typed in 36 brain bleeding patients and 36 controls by polymerase chain reaction-restriction fragment length polymorphism.Results Coagulation factor Ⅶ allelic frequencies of R,Q were 90.3%,9.7% and 88.9%,11.1% in brain bleeding group and control group respectively.Genotype distribution was in accordance with Hardy-Weinberg equilibrium.There was no significant difference in frequencies of allele and genotype in R353Q polymorphisms between brain bleeding group and control group.Conclusion The R353Q polymorphisms of the coagulation factor Ⅶ gene may not have a relationship with brain bleeding patients of Han Chinese in southern of China.更多还原