DNA测序法检测血友病B患者F9基因突变  

Detection of FⅨ gene mutation in patients with hemophilia B by DNA sequencing

作　　者：马莉[1] 刁戈[1] 肖小璞[1] 孙盼[1] 李长清[1] 林方昭[1] 

机构地区：[1]中国医学科学院北京协和医学院输血研究所,四川成都610052

出　　处：《中国输血杂志》2013年第11期1084-1087,共4页Chinese Journal of Blood Transfusion

基　　金：成都市科技计划项目(11PPYB037SF-289)

摘　　要：目的分析血友病B患者凝血因子Ⅸ(F9)基因突变情况。方法检测3名非亲缘关系疑似血友病B患者的表型,确定其活性缺失因子;采用PCR结合DNA测序的方法对患者F9基因作序列分析,确定其突变位点。结果 3名患者均表现为FⅨ促凝活性(FⅨ∶C)明显偏低,分别为6.1%、14.7%及6.5%,故诊断为血友病B患者,其F9基因突变分别为G20341A(Gly133Arg)、G30116A(Ala233Thr)及G31095A(Cys336Tyr)。结论检测到3名血友病B患者的F9基因上均发生序列改变,证实了血友病B患者F9基因缺陷的分子机制。Objective To analyze the gene mutations in Hemophilia B patients. Methods The coagulation factor IX activities and the mutation sites of three unrelated Hemophilia B patients were detected by using phenotype diagnosis and di- rect DNA sequencing. Results The three patients were diagnosed as Hemophilia B because of the low F IX ： C （6. 1%, 14. 7% ,and 6. 5% respectively ） ,the FIX gene mutations in them were G20341A（Gly133Arg） ,G30116A（Ala233Thr） and G31095A（Cys336Tyr）. Conclusion Each of the patients with Hemophilia B has the sequence changes, which provides some evidences for molecular mechanism of genetic flaw in these patients.

关 键 词：血友病B 凝血因子IX 内基因 基因突变 DNA测序 

分 类 号：R446.112[医药卫生—诊断学] R554.1[医药卫生—临床医学]