中国脑血栓患者家系凝血因子Ⅸ基因SNP9的检测

摘要

目的凝血因子Ⅸ基因在第六外显子 23384～ 23387 bp存在单核苷酸多态性 (SNP9).探讨这一单核苷酸的多态性在中国北方人群脑血栓发病机制中的作用.方法应用聚合酶链反应-限制性片断长度多态性 (PCR- RFLP)的方法,检测 20个脑血栓患者和他们家系, 60例正常健康人群凝血因子Ⅸ第六外显子 2338～ 23387 bp多态性分布.结果 20例脑血栓患者和 40例他们的家系成员,在 MnⅡ酶切后,可见 307 bp片断基因类型全部是 A.对照组 60例基因多态性基因型也显示为 A,阳性对照可见 A、 G和 AG.结论在这一等位基因位点脑血栓家系和正常人群基因多态性基因型均为 A型.%Aim Coagulation factor-Ⅸ gene appears SNP9 in exon 6 between 23 384- 23 387 bp in cerebral thrombosis patients and exploring effect of SNP9 on pathogeny of patients in northeastern China.Methods PCR- restriction fragment length polymorphism(PCR- RFLP) was adopted in genotyping SNP9 in 20 patients and their genealogy, as well as 60 random healthy individuals as control.Results SNP9 genotype of 307 bp fragment was all A type after dissolved by MnII enzyme in 20 patients with cerebral thrombosis,their genealogy and 60 healthy people.type A,type G and type AG were found in positives contrastive people.Conclusion Genotype of genetic polymorphism are type A in alleles of cerebral thrombosis patients and those of control.