Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
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中国B型血友病患者F9突变谱：鉴定出20个新突变
DOI：
10.1097/pat.0b013e328353443d
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发表时间：
2012-06-01
期刊：
影响因子：
4.5
通讯作者：
Fu, Qihua
中科院分区：
文献类型：
--
作者：
Yu, Tingting;Dai, Jing;Fu, Qihua
目的：血友病B（HB）是一种由F9突变引起的X连锁隐性出血性疾病。本研究对107例中国乙型肝炎患者的F9基因突变进行了分子生物学分析，并分析了中国乙型肝炎患者的F9基因突变谱。方法：107例中国乙型肝炎患者纳入本研究。采用F9全序列直接测序或高分辨熔解曲线（HRM）分析外显子1 ~ 7突变扫描结合外显子8直接测序的方法，对这些患者进行突变鉴定。结果：107例乙型肝炎患者共检测到78种F9基因突变。这些突变由50个错义突变、14个无义突变、9个小缺失、3个剪接位点突变和2个小插入组成。78个突变中有43个位于因子IX（FIX）催化结构域。在78个突变中，有20个以前没有报道过。结论：F9基因突变是异质性的，错义突变是中国乙肝患者中最常见的基因缺陷。
Aims: Haemophilia B (HB) is an X-linked recessive haemorrhagic disorder caused by F9 mutations. In this study, we performed molecular analysis of 107 Chinese HB patients and analysed the F9 mutation spectrum of Chinese HB patients. Methods: 107 Chinese HB patients were enrolled in this study. Direct sequencing of the whole F9 or mutation scanning of exon 1 to exon 7 by high resolution melting (HRM) curve analysis combined with direct sequencing of exon 8 was used to identify the mutations in these patients. Results: 78 different F9 mutations were identified in the 107 HB patients. The mutations were composed of 50 missense mutations, 14 nonsense mutations, nine small deletions, three splice site mutations and two small insertions. Forty-three of 78 mutations were located in factor IX (FIX) catalytic domain. Among the 78 mutations, 20 have not been previously reported. Conclusions: The F9 mutations were heterogenous and the missense mutations were the most prevalent gene defects in Chinese HB patients.