|本期目录/Table of Contents|

[1]王珊珊 王天明 刘兴元.先天性房间隔缺损相关TBX5基因新突变研究[J].国际心血管病杂志,2020,05:305-309.
　WANG Shanshan,WANG Tianming,LIU Xingyuan..Mutation of the TBX5 gene associated with congenital atrial septal defect[J].International Journal of Cardiovascular Disease,2020,05:305-309.
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先天性房间隔缺损相关TBX5基因新突变研究(PDF)

《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:
2020年05期
页码:
305-309
栏目:
临床研究
出版日期:
2020-10-15

文章信息/Info

Title:
Mutation of the TBX5 gene associated with congenital atrial septal defect
作者:
王珊珊 王天明 刘兴元
201204 上海,同济大学医学院附属第一妇婴保健院新生儿科(王珊珊); 200065 上海,同济大学医学院附属同济医院儿科(王天明、刘兴元)
Author(s):
WANG Shanshan1;  WANG Tianming2;  LIU Xingyuan2.
1. Department of Neonatology, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204; 2. Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China.
关键词:
房间隔缺损;  遗传学;  转录因子;  TBX5;  报告基因分析
Keywords:
Atrial septal defect;  Genetics;  Transcription factor;  TBX5;  Reporter gene assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2020.05.012
文献标识码:
-
摘要:
目的:研究先天性房间隔缺损(ASD)相关TBX5基因新突变。方法:从中国汉族人群入选62例ASD患者和108名健康对照者,提取基因组DNA。对全部研究对象的TBX5基因的整个编码区进行测序分析以发现新的致病突变。构建野生型及突变型TBX5的真核表达载体,利用脂质体转染COS-7细胞,同时转染报告质粒心房利钠因子-荧光素酶及内对照质粒,应用双荧光素酶报告基因分析试剂研究突变型TBX5的转录活性。结果:在1例散发型ASD患者中发现了1个杂合性TBX5基因新突变,即c.318C>G(p.Y106X)突变。该无义突变不存在于108名健康对照者。功能分析表明突变型TBX5对靶基因的转录激活功能丧失。结论:发现1个ASD相关TBX5基因功能缺失性新突变,对ASD的个体化防治具有潜在的临床意义。
Abstract:
Objective:To study a novel TBX5 mutation involved in congenital atrial septal defect(ASD).Methods:A total of 62 patients of Han nationality with ASD and 108 healthy individuals were recruited, from which genomic DNA were extracted. The entire coding regio

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备注/Memo

备注/Memo:
基金项目:上海市自然科学基金(16ZR1432500)
信作者:刘兴元,E-mail:liuxingyuan402@163.com
更新日期/Last Update: 2020-10-15