中国囊性纤维化患儿囊性纤维化跨膜传导调节因子基因突变分析

Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in Chinese children with cystic fibrosis

目的总结中国囊性纤维化（cystic fibrosis，CF）患儿囊性纤维化跨膜传导调节因子（cystic fibrosis transmembrane conductance regulator，CFTR）的基因突变谱。方法检索1975年1月至2017年3月中国知识基础设施数字图书馆、万方数据库、维普数据库、美国国立医学图书馆数据库网上检索系统（PubMed），总结检索到的中国CF患儿及广州医科大学附属第一医院确诊的1例CF中国患儿CFTR基因突变情况。纳入标准：公开发表的文献；报道对象为确诊的中国CF患儿并有CFTR基因突变。排除标准：重复报告文献；未经确诊的病例报道；报道病例无CFTR基因突变资料。结果共58例CF中国患儿。61种CFTR基因突变，依次为：c.2909G→A（p.G970D）（出现9次），1898＋5G→T（该突变在高加索人种未发现）、c.263T→G（分别出现6次），c.3196C→T、c.1766＋5G→T、c.3068 T→G（分别出现5次），2215insG、c.1666A→G（分别出现4次），G2816A、c.293A→G、c.595C→T、c.326A→G（分别出现3次）。发现新突变c.3635delT、c.2907A→C、c.648 G→A（W216X）、c.960_961insA （1092insA）、c.1075C→T、c.1699G→T、c.2491-126T→C、c.3307delA和c.110 C→G。未发现△F508突变。结论中国CF患儿最常见的CFTR基因突变是c.2909G→A，未发现高加索人最常见的△F508突变。中国CF患儿CFTR基因突变谱与欧美国家存在较大差异。

ObjectiveTo summarize the cystic fibrosis transmembrane conductance regulator （CFTR） gene mutation spectrum in Chinese children with cystic fibrosis（CF）.MethodsThe data of Chinese children with CF reported in China national knowledge infrastructure, wanfang database, VIP journal database, PubMed were collected.The CFTR gene mutations of the patients retrieved and summarized, 1 case diagnosed in the First Affiliated Hospital, Guangzhou Medical University were summarized.Inclusion criteria included： data from published literature, the cases reported were Chinese children with CF and with CFTR gene mutations.Exclusive criteria included： repetitive reports, undiagnosed patients, or patients without CFTR gene mutations.ResultsThere were 58 Chinese children with CF, and 61 CFTR gene mutations were found.The CFTR gene mutations were ranked in order from more to less as the following： c.2909G→A （p.G970D） （9 times）; 1898＋ 5G→T, which was not found in Caucasians, and c. 263T→G（6 times respectively）; c.3196C→T, c.1766＋ 5G→T, c.3068 T→G （5 times respectively）; 2215insG, c.1666A→G （4 times respectively）; G2816A, c.293A→G, c.595C→T, c.326A→G （3 times respectively）; c.3635delT, c.2907A→C, c.648 G→A （W216X）, c.960_961insA （1092insA）, c.1075C→T, c.1699G→T, c.2491-126T→C, c.3307delA and c. 110 C→G were novel observation.△F508 was not found.ConclusionsThe most common CFTR gene mutation is c. 2909G→A （p.G970D） in Chinese children with CF.△F508 which is the most common mutation in Caucasian not found in Chinese children with CF.The gene mutation spectrum of CFTR in Chinese children with CF is significantly different from those in European and American countries.