山东省乙型血友病患者的基因检测及分析  

Gene detection and analysis for hemophilia B among populations in Shandong Province

作　　者：卢敏[1] 陈昀[1] 丁卜同[2] 常亚丽[1] 周亚伟[1] 赵爱平[3] 郭农建[1] 

机构地区：[1]山东大学附属济南市中心医院血液科,山东济南250013 [2]山东大学附属济南市中心医院病理科,山东济南250013 [3]山东省血液中心山东省血友病诊疗中心,山东济南250013

出　　处：《山东大学学报（医学版）》2015年第3期87-92,共6页Journal of Shandong University:Health Sciences

摘　　要：目的分析乙型血友病患者FⅨ基因的突变类型,初步探讨乙型血友病发病的分子机制。方法采用PCR扩增目的片段结合直接测序方法,对19个家系24例乙型血友病患者FⅨ基因的8个外显子及其侧翼序列进行检测,并与国际FⅨ基因突变数据库相比对。结果 24例患者FⅨ基因共检测出18种不同突变类型,其中c.200del A、c.306del T、c.688-690del GGA、c.1025C>G、c.1157C>A等5种突变类型为首次发现。结论 FⅨ基因突变是导致乙型血友病的根本原因。FⅨ基因突变分散,呈高度异质性。研究发现5种新突变,丰富了FⅨ基因突变谱,为乙型血友病发病的分子机制提供了一定的分析依据。Objective To analyze the FⅨ gene mutation type of hemophilia B among populations in Shandong Province,and to explore the molecular mechanism of this disease. Methods The 8 exons of FⅨ gene and their flanking sequence of 24 cases of hemophilia B from 19 different families were detected with PCR amplification and direct sequencing. The data obtained were compared with data in the international FⅨ gene mutations database. Results A total of18 different types of mutations were detected. Our study first discovered 5 newmutation types,including c. 200 del A,c. 306 del T,c. 688-690 del GGA,c. 1025 C 〉G,and c. 1157 C〉 A. Conclusion FⅨ gene mutation is the fundamental cause of hemophilia B,which presents high heterogeneity and dispersibility. This experiment has discovered 5 kinds of newmutations,which not only enrich the FⅨ gene mutations spectrum,but also provide the molecular basis of the pathogenesis.

关 键 词：乙型血友病 凝血因子Ⅸ 基因突变 基因测序 

分 类 号：R574[医药卫生—消化系统]