转录因子GATA-4突变在心脏圆锥动脉干畸形患儿中的研究

A novel GATA-4 mutation identified in children with cardiac conotruncal defects

目的:研究心脏圆锥动脉干畸形患儿新的分子病因。方法:收集48例圆锥动脉干畸形患儿和100例健康对照者外周血标本,使用血液基因组DNA抽提试剂盒抽提外周静脉血基因组DNA。应用聚合酶链反应扩增GATA-4基因6个外显子编码区和邻近序列后分别直接测序,借助BLAST程序将所测序列与GenBank中的已知序列进行比对以识别基因突变。结果:在1例永存动脉干患儿GATA-4基因识别出1个错义突变,即第267位的密码子由GTG变为ATG,亦即c.799G>A(P.V267M)。结论:转录因子GATA-4基因c.799G>A(P.V267M)突变可能与圆锥动脉干畸形的发生有关。

Objective： To identify the novel genetic determinants in children with cardiac conotruncal defects. Methods： The peripheral venous blood samples from 48 unrelate individuals with cardiac eonotruncal defects and 100 healthy control were collected and evaluated. The complete coding exons and the partial flanking introns of GATA-4 gene were amplified by polymerase chain reaction and sequenced by di-deoxynucleotide chain termination method. The generated sequences were aligned with those retrieved from GenBank with the aid of programme BLAST to identify the sequence variation. Results： One heterozygous missense GATA-4 mutation was identified in a child with persistent truncus arteriosus. The triplet substitutions of ATG for GTG at codon 267 predicting the conversions of valine into methionine at amino acid residue 267（V267M） was identi fled. Conclusion： Transcription factor GATA-4 gene mutation may be associated with the occurrence of cardiac conotruncal de fects.