摘要
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 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.
出处
《中国优生与遗传杂志》
2012年第5期28-30,共3页
Chinese Journal of Birth Health & Heredity
基金
山东省人口和计划生育委员会科学技术研究项目
编号:(2010)年第(10)号
