论文部分内容阅读
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。
Objective To study the mutation of GATA4 gene in children with congenital heart disease in Qingdao, Shandong Province. Methods All the exons of GATA-4 gene in 70 children with congenital heart disease were screened by PCR direct sequencing. Results A heterozygous mutation of GA-TA4 gene was found in one child with ventricular septal defect of congenital heart disease. A heterozygous mutation of G> A occurred at 886 site of exon 4 cDNA (c.886G> A) As a result, the codon 296 of the encoded protein was mutated from glycine to serine (p.G296S), which was a missense mutation. Conclusion The p.G296S mutation of GATA-4 gene was found in children with congenital heart disease in Qingdao, Shandong Province. This mutation may lead to congenital heart disease.