中国人单纯性先天性心脏病患儿NKX2-5与GATA4基因突变分析  

NKX2-5 and GATA4 gene mutation analysis of simple congenital cardiopathy in Chinese

作　　者：庄太凤[1] 景红 邢继伟[1] 张巍[1] 魏珉 

机构地区：[1]首都医科大学附属北京妇产医院儿科,100026 [2]中国医学科学院北京协和医学院北京协和医院儿科

出　　处：《中华临床医师杂志（电子版）》2011年第13期3737-3740,共4页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的初步研究中国人单纯性先天性心脏病患儿的基因突变类型,为中国人单纯性先天性心脏病患儿的产前诊断和治疗提供依据。方法收集96例曾住院治疗的、临床确诊的单纯性先天性心脏病患儿的外周静脉血至乙二胺四乙酸(EDTA)抗凝采血管,提取DNA,设计引物,行NKX2-5与GATA4外显子扩增并测序。结果 96例患者中,有6例检测出致病基因突变,检出率为6.25%,具体突变为NKX2-5:c.536C>T(S179F),c.508C>T(Q170X),c.88A>T(A30T),c.554G>T(W185L),GA-TA4:c.1273G>A(D425N),c.799A>G(V267M)。本课题检测出4个NKX2-5突变以及两个GATA4基因突变,均为已经报道的突变。结论本课题突变检出率为6.25%,表明NKX2-5或者GATA4突变可能不是造成中国人单纯性先天性心脏病的最主要原因;检出5例房间隔缺损(ASD)突变,表明遗传因素可能对ASD更重要;检出4个NKX2-5基因的突变,表明NKX2.5在早期心脏发育起重要作用。Objective The study focused on the gene mutation analysis of simple congenital cardiopathy in Chinese.We need to explore the way to prenatal diagnosis of simple congenital cardiopathy and treatment.Methods We collected 96 patients of simple congenital cardiopathy,who were diagnosed in paediatric from 2006 to 2009.At the same time,we had got the agreement of those patients or their parents.Analysis of exons in the NKX2-5 and GATA4 gene was based on PCR and direct DNA sequencing.Results Among 96 patients,there were 6 patients who had virulence gene mutation.The detection rate was 6.25%.Patient 1 had a c.536 C>T transition at NKX2-5(S179F).Patient 23 had a c.508 C>T transition at NKX2-5(Q170X).Patient 31 had a c.88 A>T transition at NKX2-5(A30T).Patient 89 had a c.554G>T transition at NKX2-5(W185L).Patient 56 had a c.1273G>A transition at GATA4(D425N).Patient 68 had a c.799A>G transition at GATA4(V267M).These mutations were all reported.Conclusions The detection rate of gene mutation was 6.25% in this study.It indicated that NKX2-5 or GATA4 monogenic mutation was not the most important factor to result in congential cardiopathy.There were 5 ASD cases among 6 patients.It indicated that hereditary factor played more important roles in the pathogenesis of ASD.There were 4 NKX2-5 gene mutations among 6 patients.It indicated that NKX2-5 transcription factor contributed to the procedure of the nonage development in the heart.

关 键 词：心脏病 基因 突变 NKX2-5 GATA4 

分 类 号：R725.4[医药卫生—儿科]