|本期目录/Table of Contents|

[1]陆彩霞,刘兴元,杨奕清.散发先天性心脏病致病基因SOX7新突变的发现及功能研究[J].国际心血管病杂志,2024,04:237-241.
 LU Caixia,LIU Xingyuan,YANG Yiqing..Identification and functional study of a novel SOX7 mutation associated with sporadic congenital heart disease[J].International Journal of Cardiovascular Disease,2024,04:237-241.
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散发先天性心脏病致病基因SOX7新突变的发现及功能研究(PDF)

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

期数:
2024年04期
页码:
237-241
栏目:
临床研究
出版日期:
2024-07-31

文章信息/Info

Title:
Identification and functional study of a novel SOX7 mutation associated with sporadic congenital heart disease?
作者:
陆彩霞刘兴元杨奕清
作者单位:200093 上海市杨浦区控江医院儿科(陆彩霞);200065 上海,同济大学医学院附属同济医院儿科(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):
LU Caixia1 LIU Xingyuan2 YANG Yiqing3.
1. Department of Pediatrics,Shanghai Yangpu District Kongjiang Hospital, Shanghai? 200093; 2. Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine,Shanghai? 200065; 3. Department of Cardiology, Cardiovascular Research Laboratory
关键词:
先天性心脏病分子遗传学SOX7基因转基因报告基因分析
Keywords:
Congenital heart disease Molecular genetics SOX7 gene TransgeneReporter gene analysis
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2024.04.012
文献标识码:
-
摘要:
目的:寻找散发先天性心脏病(CHD)致病基因SOX7新突变并研究其功能。??方法:选取116例散发CHD患儿和228名无CHD对照儿童,对其SOX7基因进行测序分析,以发现新的致CHD突变。克隆SOX7基因并构建野生型人SOX7表达质粒,通过定点诱变产生突变型人SOX7表达质粒,使用脂质体转染多种表达质粒入HeLa细胞,应用双报告基因定量分析突变的功能效应。?结果:在1例男性散发先天性室间隔缺损患儿中发现了SOX7基因新突变,即NM_031439.4:c.361C>T;p.(Gln121*)突变;在其他1
Abstract:
Objective: The aim of this study was to search for a novel SOX7 mutation and to assess its function in sporadic congenital heart disease (CHD).? Methods: 116 children suffering from sporadic CHD and 228 non-CHD children were enrolled. Sequencing assay of

参考文献/References

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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: 2024-07-31