遗传性凝血因子Ⅺ缺陷症家系的凝血因子Ⅺ基因突变分析

摘要

Trp501Cys),5种无义突变(Trp501Stop、Arg479Stop、Trp228Stop、Gln263Stop和Trp383Stop),1种碱基缺失突变(1325t缺失).其中的Trp228Stop突变存在于7个家系中,可能为中国汉族人群中遗传性FⅪ缺陷症的突变热点.结论 所发现的13种FⅪ基因突变可能是导致中国汉族人遗传性FⅪ缺陷的分子发病机制.%Ⅺ deficiency in Chinese Han population. Conclusion The 13 mutations of the F Ⅺ gene which were found in this study may unravel the molecular pathogenesis of the F Ⅺ deficiency in Chinese Han population.