论文部分内容阅读
目的对1例凝血因子Ⅺ(FⅪ)缺陷症患儿进行基因检测及临床分析,以探讨其发病机制。方法应用过柱法从患儿外周血中提取DNA,应用双脱氧链末端终止法测序技术对FⅪ基因的外显子编码区进行直接测序,并与参考序列进行比较。结果在患儿外周血中检测到致病的基因突变:FⅪc.738G→A(p.色氨酸246~*)杂合突变和c.841G→T(p.谷氨酰胺281~*)杂合突变,确诊为FⅪ缺陷症,该突变为国内首次报道。通过间断输注新鲜冰冻血浆后,活化部分凝血活酶时间接近正常。结论 FⅪ缺陷症是由于FⅪ基因缺陷,常染色体不完全隐性遗传的罕见疾病。导致该患儿FⅪ缺陷症的发病机制是无义突变,考虑机制为循环中产生的FⅪ减少或FⅪ基因表达发生障碍所致。
Objective To investigate the gene and clinical analysis of 1 case of F Ⅺ deficiency in children to explore its pathogenesis. Methods DNA was extracted from peripheral blood of children by over-column method. The exon coding region of FXI gene was directly sequenced by dideoxy chain termination method and compared with the reference sequence. RESULTS: Pathogenic mutations were detected in the peripheral blood of children with heterozygous mutation of FXIc.738G → A (p. Tryptophan 246 ~ *) and c.841G → T (p. Glutamine 281 ~ *) Combined mutation, diagnosed as FXI deficiency, the mutation was first reported in China. By intermittent infusion of fresh frozen plasma, activated partial thromboplastin time close to normal. Conclusions FXI deficiency is a rare disease characterized by defects of FXI gene and incomplete autosomal recessive inheritance. The pathogenesis of FXI deficiency in this child is a nonsense mutation that is thought to be due to a reduction in circulating FXI or a disorder in FXI gene expression.