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目的:对1例凝血因子Ⅶ(FⅦ)缺陷症患者进行FⅦ基因分析,探讨其发病的分子机制。方法:检测血浆中凝血酶原时间(PT)、凝血因子Ⅶ活性(FⅦ:C)及其他凝血指标以明确诊断;用DNA直接测序法对患者FⅦ基因的全部外显子及其侧翼和3’,5’非翻译区进行分析,寻找基因突变,反向测序证实所发现的突变;选择100例健康体检者作对照。结果:患者的PT和FⅦ:C明显异常,分别为33.7s和2%;患者FⅦ基因5号外显子存在g.8355A>T杂合突变,导致p.Gln100Leu;8号外显子存在g.11482T>G杂合突变,导致p.His 348Gln。结论:患者FⅦ基因中发现了g.8355A>T(p.Gln 100Leu)和g.11482T>G(p.His 348Gln)两种杂合突变,其中p.Gln 100Leu是一种鲜有报道的新突变类型。
Objective: To investigate the molecular mechanism of FⅦ gene in one case of FⅦ deficiency. Methods: The prothrombin time (PT), coagulation factor Ⅶ activity (FⅦ: C) and other coagulation indexes in plasma were determined to confirm the diagnosis. All the exons of FⅦ gene and their flanking and 3 ’ , 5 ’untranslated region analysis, looking for gene mutations, reverse sequencing confirmed the found mutations; select 100 cases of healthy people as a control. Results: The patients were significantly abnormal PT and FⅦ: C, respectively 33.7s and 2%; patient F VII gene exon 5 exon g.8355A> T heterozygous mutation, resulting in p.Gln100Leu; Exon 8 exists g.11482T > G heterozygous mutation, resulting in p.His 348Gln. CONCLUSIONS: Two heterozygous mutations of g.8355A> T (p.Gln 100Leu) and g.11482T> G (p.His 348Gln) were found in FⅦ gene, of which p.Gln 100Leu is a rarely reported novel Mutation type.