JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES) ›› 2015, Vol. 53 ›› Issue (3): 87-92.doi: 10.6040/j.issn.1671-7554.0.2014.844

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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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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

CLC Number: 

  • R574
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