Screening of NKX2-5,GATA4,ZIC3 gene mutations in sporadic congenital simple heart disease in Hainan Province  

作　　者：LI Qing-Man GUO Feng LING Yi LI Hui-hui LIU Fang-fang LIU Hui WEN Zhuang-fei SUN Wei-wei LIU Yi-heng ZHANG Hai-ying 

机构地区：[1]Hainan Medical University Key Laboratory for Research and Transformation of Tropical Brain Science,Haikou 571199,China [2]Department of Obstetrics and Gynecology,The First Affiliated Hospital of Hainan Medical College,Haikou 570102,China [3]Department of Laboratory,The First Hospital of Nanping City,Fujian Province,Nanping 353006,China [4]Children's Rehabilitation Department,Haikou Hospital of the Maternal and Child Health,Haikou 570102,China [5]Department of Pediatrics,Haikou People’s Hospital,Haikou 570208,China [6]Department of Orthopedics,Haikou Affiliated Hospital of Central South University Xiangya School of Medicine,Haikou 570208,China

出　　处：《Journal of Hainan Medical University》2022年第19期32-36,共5页海南医学院学报（英文版）

基　　金：Natural Science Foundation of Hainan Province(No.821RC562);Re-research Project of Hainan Province(No.ZDYF2022SHF2081);National Natural Science Foundation of China(No.81660224);Graduate Innovation Project of Hainan Province(No.Qhys2021-353)。

摘　　要：Objective:Congenital heart disease(CHD)is caused by abnormal cardiac development,which is the most common congenital malformation at home and abroad.NKX2-5,GATA4 and ZIC3 have been shown to be associated with CHD.This experiment explored the relationship between NKX2-5,GATA4 and ZIC3 gene mutations and sporadic CHD in Hainan Province.Methods:To collect 210 sporadic CHD patients in Hainan,the DNA of patients was extracted from blood,and the target gene fragments were amplified.Using high-resolution melting(HRM)and DNA sequencing technology,and we analyzed the sequences of NKX2-5,GATA4 and ZIC3 genes.Results:NKX2-5,GATA4 and ZIC3 genes were sequenced in 210 CHD patients,and seven gene mutations were found,including NKX2-5 heterozygous missense mutation(c.178G>T)and three heterozygous mutations in GATA4(c.677C>T,c.928A>G,c.1123G>A),three heterozygous mutations in ZIC3(c.19G>C,c.1255C>G,c.1348C>T),in which NKX2-5(c.178G>T),GATA4(c.1123G>A),and ZIC3(c.1255C>G,c.1348C>T)are new mutation sites.These gene mutations were predicted to be pathogenic mutations by bioinformatics software.Conclusion:Conclusion:Seven gene mutations were found in 210 patients,and it was the first report that the gene mutations of NKX2-5,GATA4 and ZIC3 in Hainan Province associated with the pathogenesis of CHD.

关 键 词：Congenital heart disease Gene mutation NKX2-5 GATA4 ZIC3 

分 类 号：R541[医药卫生—心血管疾病]