辽宁地区24个血友病B家系的FIX基因突变分析

Analysis on the mutation of FIX gene in 24 pedigrees of hemophilia B in Liaoning

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 24 pedigrees of Hemophilia B （HB） in LiaoNing, to establish the optimal molecular diagnostic strategy and to enrich the HBMD （Hemophilia B Mutation Database） .Methods.. Polymerase chain reaction （PCR） amplification and direct sequencing of all exons of FIX were performed.Results： A total of 20 kinds mutations were detected with a mutation detection rate of 100%, four of them were observed for the ftrst time; one of the mutations exists in intron. Conclusion. Direct sequencing of all exons with flanking sequences is considered as the golden standard for HB patients. The mutation in intron could result in HB.