摘要目的 研究中国北方人群骨髓衰竭综合征(BMF)患者端粒酶复合体基因突变发生的频率.方法 收集北方地区4家综合医院诊断明确的BMF患者90例(包括再生障碍性贫血、骨髓增生异常综合征、阵发性睡眠性血红蛋白尿症),正常对照45名.提取患者外周血DNA.PCR方法扩增TERC基因及TERT基因第一、二外显子,双脱氧核酸终止法测序.结果 90例BMF患者中发现2例TERC基因突变和2例TERT突变.TERC突变为n37 A→G和n 66G→C.TERT基因突变为n1870 G→T,造成氨基酸缺失E/*和n1780 G→T,造成氨基酸替换S/I.除TREC n37 A→G突变外,均为首次报道.其中1例TERT突变患者最终诊断为先天性角化不良(DKC),而非获得性BMF.90例患者最终确诊获得性BMF患者共89例,其中发现3例突变.中国北方BMF人群中端粒酶基因突变发生率为3.4%.结论 首次报道了我国BMF患者端粒酶基因的3种突变.中国北方人群中获得性BMF患者端粒酶复合体基因突变发生率为3.4%.端粒酶基因突变可引起端粒的缩短,可能是疾病发生的原因之一.

abstractsObjective To study the frequency of telomerase gene (TERC and TERT) mutation in Northern Chinese patients with acquired bone marrow failure syndromes (BMFS).Methods DNA extracted from blood samples of 90 patients with BMFS (including AA,MDS,and PNH) and 45 normal controls from 4 northern hospitals was collected.TERC and TERT mutation analysis was performed by PCR.Results Two TERC mutations (n37 A→G,and n66 G→c) and two TERT mutations [n1870 G→T(E/*)];and [n1780 G→T(S/I)] were identified in 90 BMFS patients.Among them,3 mutations were reported for the first time.One patient with TERT mutation,however,was finally diagnosed as DKC instead of acquired AA,making the incidence of telomerase gene mutation in northern Chinese people with acquired BMFS 3.4%,similar to that of the western country people.Conclusion The incidence of telomerase gene mutation in northern Chinese people with acquired bone marrow failure syndromes is 3.4%,similar to that of the western country people.