| GATA4基因在汉族先天性房室间隔缺损患者中的突变分析(英文) |
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| 引用本文： | 张丽,沈捷,袁浪,李晓维,郭颖,黄敏,李奋. GATA4基因在汉族先天性房室间隔缺损患者中的突变分析(英文)[J]. 临床儿科杂志, 2011, 29(10). DOI: 10.3969/j.issn.1000-3606.2011.10.001 |
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| 作者姓名： | 张丽 沈捷 袁浪 李晓维 郭颖 黄敏 李奋 |
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| 作者单位： | 1. 上海交通大学附属儿童医院,上海,200040,中国
2. 上海交通大学医学院附属上海儿童医学中心,上海,200127,中国 |
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| 基金项目： | Supported by Bang Bao Scholar Program |
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| 摘 要： | 目的通过检测GATA4基因在房室间隔缺损(AVSD)患儿中的突变情况,探讨其在房室间隔缺损发病机制中的作用。方法收集94例汉族AVSD患儿(包括合并21三体综合征23例,散发病例71例)的血液标本,PCR方法扩增GATA4基因全部编码序列后,对扩增产物进行测序,然后与GenBank人中GATA4基因编码序列进行比对,并以100例健康汉族儿童为对照。结果在94例患儿中检出4例错义突变(碱基变化为C106G、C259T、C504A、A1079G,氨基酸改变分别为P36A,P87S,D168E,E360G),前三者为散发的非综合征完全性AVSD患儿,第4例为完全性AVSD伴21-三体综合征患儿;6例患者发现多态性(rs56166237,碱基变化为G99T,氨基酸编码A33A)。结论 GATA4基因作为心脏发育的重要转录因子,其基因突变可能导致GATA4蛋白功能的改变,从而导致AVSD的发病;GATA4基因在合并21-三体综合征抑或散发的AVSD患者中突变率均不高,提示AVSD可能是一个多基因的遗传性心脏疾病。
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| 关 键 词： | GATA4基因 先天性心脏病 房室间隔缺损 21-三体综合征 |
Mutation analysis of GATA4 gene in Han Chinese patients with atrioventricular septal defect |
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| ZHANG Li,SHEN Jie,YUAN Lang,LI Xiao-wei,GUO Ying,HUANG Min,LI Fen. Mutation analysis of GATA4 gene in Han Chinese patients with atrioventricular septal defect[J]. The Journal of Clinical Pediatrics, 2011, 29(10). DOI: 10.3969/j.issn.1000-3606.2011.10.001 |
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| Authors: | ZHANG Li SHEN Jie YUAN Lang LI Xiao-wei GUO Ying HUANG Min LI Fen |
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| Affiliation: | ZHANG Li1,SHEN Jie1,YUAN Lang1,LI Xiao-wei1,GUO Ying2,HUANG Min1,LI Fen2(1.Department of Cardiology,Children's Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200040,China,2.Heart Center,Shanghai Children's MedicalCenter Affiliated to Shanghai Jiaotong University School of Medicine,Shanghai 200127,China) |
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| Abstract: | Objective To analyze the mutations of GATA4 gene in Han Chinese patients with atrioventricular septal defect(AVSD)and investigate the association between GATA4 gene and pathogenesis.Methods Ninety-four Han Chinese patients with AVSD were recruited,including 23 patients with Down syndrome and 71 patients without.One hundred healthy age-matched Han children were used as the control.Blood samples were drawn.Encoding region and flanking introns of GATA4 gene were amplified using polymerase chain reaction.The mu... |
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| Keywords: | GATA4 gene congenital heart defects atrioventricular septal defects Down syndrome |
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