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目的研究1例凝血因子Ⅺ(FⅪ)缺乏症患者的基因突变,揭示其分子发病机制。方法应用凝固时间法测定患者血浆活化部分凝血活酶时间(APTT)、凝血酶原时间(PT)、凝血酶时间(TT)、纤维蛋白原含量(Fbg)、凝血因子Ⅷ促凝活性(FⅧ∶C)、凝血因子Ⅸ促凝活性(FⅨ∶C)、FⅪ促凝活性(FⅪ∶C)及凝血因子Ⅻ促凝活性(FⅫ∶C);采用聚合酶链式反应(PCR)扩增产物直接测序的方法对患者FⅪ基因进行直接检测,鉴别其中可能存在的基因变异。结果患者血浆中APTT、PT、TT、Fbg含量、FⅧ∶C、FⅨ∶C、FⅪ∶C及FⅫ:C分别为64.2s、12.8s、17.9s、3.8g/L、87.4%、71.2%、16.6%及80.2%,其FⅪ基因第13号外显子编码482位氨基酸的碱基发生杂合性的错义突变TGC→TGG(Cys482Trp)。结论 Cys482Trp的杂合突变可能是导致患者FⅪ缺乏的分子发病机制。
Objective To investigate the gene mutation in 1 case of coagulation factor Ⅺ (FXI) deficiency and to reveal its molecular pathogenesis. Methods Plasma coagulation factor (APTT), prothrombin time (PT), thrombin time (TT), fibrinogen content (Fbg), coagulation factor Ⅷ procoagulant activity (F Ⅷ: C), coagulation factor Ⅸ procoagulant activity (F Ⅸ: C), F Ⅺ procoagulant activity (F Ⅺ: C) and coagulation factor Ⅻ procoagulant activity (F Ⅻ: C); using polymerase chain reaction Sequencing method was used to directly detect the FXI gene in patients and to identify the possible gene mutation. Results The plasma levels of APTT, PT, TT, Fbg, FⅧ:C, FⅨ:C, F Ⅺ:C and FⅫC were 64.2s, 12.8s, 17.9s, 3.8g / L, 87.4%, 71.2% 16.6% and 80.2%. The missense mutation TGC → TGG (Cys482Trp) was found in the base of amino acid 482 of exon 13 of FXI gene. Conclusion The heterozygous mutation of Cys482Trp may be the molecular pathogenesis of FXI deficiency in patients.