青岛地区先天性心脏病患儿GATA-4基因突变的研究

目的研究山东省青岛地区先天性心脏病患儿GATA4基因突变情况。方法采用PCR直接测序技术对70例先天性心脏病患儿GATA-4基因的全部外显子进行基因突变筛查。结果在1例先天性心脏病室间隔缺损患儿中发现GA-TA4基因的杂合性突变,为第4外显子cDNA的886位点发生G〉A的杂合突变（c.886G〉A）,结果导致其编码蛋白的第296密码子由甘氨酸突变为丝氨酸（p.G296S）,为错义突变。结论在山东省青岛地区先天性心脏病患儿中发现了GATA-4基因的p.G296S突变,该突变可能导致先天性心脏病。

The study of GATA-4 gene mutation of children with congenital heart disease in Qingdao District

Objective:To study GATA-4 gene mutation of congenital heart disease in Qingdao District in Shandong province.Methods:By using PCR-sequencing techniques to screen gene mutations of all exons of GATA-4 in 70 cases of children with congenital heart disease.Results:A heterozygous mutation was found in a case with congenital ventricular septal defect.This mutation occurred in the exon 4,where including a missense mutation 886G>A,predicted to result in a glycine to serine substitution at codon 296.Conclusions:A p.G296S mutation in GATA-4 gene was found in children of congenital heart disease in Qingdao District in Shandong province.This mutation may cause congenital heart disease.