|本期目录/Table of Contents|

[1]陈春英,刘兴元,杨奕清.散发性先天性心脏病相关SMAD1 基因新突变研究[J].国际心血管病杂志,2022,06:371-375.
　CHEN Chunying,LIU Xingyuan,YANG Yiqing..Role of a new SMAD1 mutation in sporadic congenital heart disease[J].International Journal of Cardiovascular Disease,2022,06:371-375.
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散发性先天性心脏病相关SMAD1 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:
2022年06期
页码:
371-375
栏目:
临床研究
出版日期:
2022-12-20

文章信息/Info

Title:
Role of a new SMAD1 mutation in sporadic congenital heart disease
作者:
陈春英; 刘兴元; 杨奕清
200065， 同济大学医学院附属同济医院儿科（陈春英，刘兴元）；200240， 复旦大学附属上海市第五人民医院心内科、心血管研 究室、中心实验室（杨奕清）
Author(s):
CHEN Chunying1;  LIU Xingyuan1;  YANG Yiqing2.
1. Department of Pediatrics, Tongji University School of Medicine, Shanghai 200065; 2. Department of Cardiology, Cardiovascular Research Laboratory, and Central Laboratory, Shanghai Fifth People′s Hospital, Fudan University, Shanghai 200240, China
关键词:
先天性心脏病; 遗传学; 转录因子; SMAD1 基因; 报告基因分析
Keywords:
Congenital heart disease;  Genetics;  Transcription factor;  SMAD1;  Reporter gene analysis
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2022.06.015
文献标识码:
-
摘要:
目的：研究散发性先天性心脏病相关SMAD1 基因新突变。 方法：入选202 例 散发性先天性心脏病患儿和238 名健康者，收集其临床资料和血标本并常规抽提基因组 DNA，测序分析SMAD1 基因以发现致病新突变。克隆SMAD1 基因，构建野生型SMAD1 表达载体SMAD1-pcDNA3.1，通过定点诱变产生突变型SMAD1-pcDNA3.1，转染COS7 细 胞，应用双荧光报告基因分析试剂研究突变的功能特性。 结果：在1 例散发性先天性右 心室双流出道合并室间隔缺损患儿中发现SMAD1 基因新突变，即NM_005900.3:c.381T>A; p.(Cys127*) 突变。该突变不存在于238 名健康者中。报告基因分析表明突变型SMAD1 对 靶基因TBX20 的转录激活作用丧失。 结论： SMAD1 基因功能丧失性突变可能是部分散发 性先天性右心室双流出道合并室间隔缺损的分子病因，这对先天性心脏病的精准医学防治具 有潜在意义。
Abstract:
Objective: To investigate the possible role of a new SMAD1 mutation in sporadic congenital heart disease. Methods: 202 children with sporadic congenital heart disease and 238 healthy subjests were included in this study. Clinical data and blood samples we

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备注/Memo

备注/Memo:
基金项目：上海市自然科学基金（16ZR1432500）
通信作者：刘兴元， E-mail：liuxingyuan402@tongji.edu.cn
更新日期/Last Update: 2022-12-20