中国脑血栓患者家系凝血因子IX基因SNP9的检测(英文)

Measure coagulation factor Ⅸ's gene SNP9 of cerebral thrombosis patients' genealogy in China

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。

Aim Coagulation factor Ⅸgene 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.