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目的凝血因子Ⅸ基因在第六外显子23384～23387bp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2338～23387bp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307bp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。
Objective The coagulation factor Ⅸ gene has a single nucleotide polymorphism (SNP9) in exon 23384-23387bp. To investigate the role of this single nucleotide polymorphism in the pathogenesis of cerebral thrombosis in northern Chinese population. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect 2338 ~ 23387bp polymorphisms of exon 6 of coagulation factor Ⅸ in 20 patients with cerebral thrombosis and their pedigrees, 60 normal controls Sexual distribution. Results 20 cases of cerebral thrombosis patients and 40 cases of their family members, Mn Ⅱ digested, we can see all 307bp gene type is A. The control group of 60 cases of genetic polymorphism genotypes also showed A, the positive control can be seen A, G and AG. Conclusion The genotypes of gene polymorphisms in pedigrees of cerebral thrombosis and normal population at this allele are all A type.