Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in Chinese children with cystic fibrosis
10.3760/cma.j.issn.2095-428X.2017.13.011
- VernacularTitle: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
- Author:
Yong CAI
;
Dehui CHEN
;
Wenkuan LIU
;
Rong ZHOU
- Keywords:
Cystic fibrosis;
Cystic fibrosis transmembrane conductance regulator;
Gene mutation;
Chinese;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2017;32(13):1000-1003
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation spectrum in Chinese children with cystic fibrosis(CF).Methods The 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.Results There 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.3196 C--→T,c.1766 ± 5 G→T,c.3068 T→ G (5 times respectively);2215 insG,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.Conclusions The 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.
