先天性心脏病胎儿心肌转录因子GATA-4基因突变检测  

Detection of GATA-4 mutations in fetuses with congenital heart disease

作　　者：何晓宇[1] 周云[2] 王水良[3] 

机构地区：[1]南京军区福州总医院妇产科,福州350025 [2]福建医科大学福总临床医学院 [3]南京军区福州总医院检验医学研究所分子医学研究中心

出　　处：《中国优生与遗传杂志》2008年第3期36-37,140,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析先天性心脏病胎儿中GATA-4基因的突变情况,期望为进一步阐明先天性心脏病发病的分子机理提供新的实验依据。方法应用PCR-DNA测序技术在20例先心病胎儿病变部位的心肌组织中筛查GATA-4基因突变。结果20例中,在1例先心病胎儿(ASD、VSD)中检测到一个突变(V267M),位于外显子4;在3例先心病胎儿中发现编码241位氨基酸(半胱氨酸)密码子的第三位碱基均存在杂合同义突变(C→T),位于外显子3,并证实是一个单核苷酸多态性(SNP)位点(rs1062215)。结论GATA-4基因突变(V267M)可能与胎儿先天性心脏病发病有关;GATA-4723C/T基因多态性(rs1062215)与胎儿先天性心脏病的关系有待进一步证实。Objective： To analyse the mutations in gene of zinc transcription factor GATA - 4 in fetuses with CHD, thus offer evidence in exploring the molecular mechanism of CHD. Methods ： The products of PCR were directly sequenced to screen for mutations in exon 3, 4, 5, 6 of GATA - 4 in 20 fetuses with a variety of CHD. Results ： A missense mutation ＋ 799G→A in exon 4 of GATA -4 gene, which resulted in a subtitution of valine by methionine at 267, was detected in a fetus with ASD and VSD. Meanwhile, a polymorphism ＋723C/T in exon 3 was observed in 3 fetuses with CHD and 1 control. Conclusion： Mutations of GATA -4 （V267M） may be associated with fetal CHD. However, the correlation between the polymorphism of GATA -4 ＋ 723C/T genotype and fetal CHD remained unknown, further investigation with a larger size will be required.

关 键 词：先天性心脏病 转录因子GATA-4 基因突变 单核苷酸多态性 

分 类 号：R714.5[医药卫生—妇产科学]