74例血友病B患者FⅨ基因突变研究  

Study on factor Ⅸ gene mutation in 74 hemophilia B patients

作　　者：刘敬忠[1] 向华[1] 刘亮[2] 李学敏 周艳[1] Sommer SS 石奇珍[4] 林敏辉[4] 张纪平[5] 谢建生[6] 

机构地区：[1]首都医科大学附属北京朝阳医院基础医学研究中心,100020 [2]中国医学科学院实验动物所 [3]美国加利福尼亚州City of Hope National Medical Center [4]福建医科大学 [5]武汉市儿童医院 [6]广西医科大学

出　　处：《中华血液学杂志》2001年第9期467-469,共3页Chinese Journal of Hematology

摘　　要：目的　研究导致中国人血友病B的凝血因子Ⅸ (FⅨ )基因突变类型的分布 ,并比较与美国白种人群有何异同。方法　从患者外周血白细胞抽提基因组DNA ,分 9段扩增FⅨ基因外显子序列 ,用基因扩增转录测序技术直接测序法检出突变。结果　 74例患者中有 6 9例查到了FⅨ基因 5 8种突变。分析比较这 6 9例患者FⅨ基因突变类型的分布特征与美国白种人差异无显著性。中国不同地区之间差异也无显著性。结论　中国人血友病B的FⅨ基因突变类型非常分散 ,呈高度异质性。Objective To investigate the distribution of the FⅨ gene mutations in hemophilia B(HB) and compare the mutation patterns between the Chinese HB and Caucasian HB. Method Genomic DNA was extracted from the blood samples of HB patients. Nine DNA segments of the FⅨ gene were amplified. Gene mutations of the amplified DNA segments were detected by direct sequencing. Result Fifty eight independent mutations were detected and identified in 69 HB patients. Among them twenty nine mutations were novel and not reported before. A similar pattern of germline mutation was found in both Chinese HB and Caucasian HB patients. Conclusion No difference was observed in mutation patterns between Chinese and Caucasian HB.

关 键 词：血友病B 凝血因子Ⅸ 聚合酶链反应 基因突变 

分 类 号：R554.1[医药卫生—血液循环系统疾病]