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目的研究辽宁地区血友病B(HB)患者的FⅨ基因的突变情况,建立最优化的分子诊断策略,丰富血友病B的突变数据库资料。方法针对24个血友病B家系的27名患者,利用聚合酶链反应(PCR)扩增和直接测序FⅨ基因的全部外显子。结果共有20种不同的突变被检测到,(突变检测率达到了100%),并发现了国际上未见报道的4种新突变,其中有一个新突变是位于内含子上。结论直接测序所有的外显子和侧翼序列被认为是血友病B患者诊断的金标准;内含子上的突变也可以导致血友病B的发生。
Objective To study the mutation of FIX gene in patients with hemophilia B (HB) in Liaoning Province and establish the optimal molecular diagnostic strategy to enrich the mutation database of hemophilia B. Methods Twenty-seven patients with 24 hemophilia B pedigrees were enrolled in this study. All exons of FIX gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Results A total of 20 different mutations were detected (mutation detection rate of 100%), and found four new international mutations have not been reported, of which a new mutation is located in the intron. Conclusion Direct sequencing of all exons and flanking sequences is considered the gold standard for the diagnosis of hemophilia B; mutations in intron can also lead to the development of hemophilia B.