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山东大学学报（医学版） ›› 2015, Vol. 53 ›› Issue (3): 87-92.doi: 10.6040/j.issn.1671-7554.0.2014.844

• 临床医学 • 上一篇    下一篇

山东省乙型血友病患者的基因检测及分析

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   

  1. 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
  • 收稿日期:2014-11-18 修回日期:2015-02-28 出版日期:2015-03-10 发布日期:2015-03-10
  • 通讯作者: 郭农建, E-mail:gnjian2002@aliyun.com E-mail:gnjian2002@aliyun.com

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

LU Min1, CHEN Yun1, DING Botong2, CHANG Yali1, ZHOU Yawei1, ZHAO Aiping3, GUO Nongjian1   

  1. 1. Department of Hematology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, Shandong, China;
    2. Department of Pathology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, Shandong, China;
    3. Hemophilia Treatment Center of Shandong Province, Blood Center of Shandong Province, Jinan 250013, Shandong, China
  • Received:2014-11-18 Revised:2015-02-28 Online:2015-03-10 Published:2015-03-10

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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.200delA、c.306delT、c.688-690delGGA、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。

关键词: 基因突变, 64排螺旋CT, 矽肺, 凝血因子Ⅸ, 基因测序, 乙型血友病, X线机, 结节

Abstract: 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 of 18 different types of mutations were detected. Our study first discovered 5 new mutation types, including c.200delA, c.306delT, c.688-690delGGA, c.1025C > G, and c.1157C >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 new mutations, which not only enrich the FIX gene mutations spectrum, but also provide the molecular basis of the pathogenesis.

Key words: Coagulation factor IX, Gene mutation, Gene sequencing, Hemophilia B

中图分类号: 

  • R574
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