|本期目录/Table of Contents|

[1]李宁,仇兴标,徐迎佳,等.特发性心房颤动致病基因PRRX1新突变的发 现及功能分析[J].国际心血管病杂志,2022,03:176-180.
　LI Ning,Qiu Xingbiao,XU Yingjia,et al.Identification and functional analysis of a new mutation in the PRRX1 gene responsible for idiopathic atrial fibrillation[J].International Journal of Cardiovascular Disease,2022,03:176-180.
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特发性心房颤动致病基因PRRX1新突变的发 现及功能分析(PDF)

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

期数:
2022年03期
页码:
176-180
栏目:
临床研究
出版日期:
2022-06-20

文章信息/Info

Title:
Identification and functional analysis of a new mutation in the PRRX1 gene responsible for idiopathic atrial fibrillation
作者:
李宁; 仇兴标; 徐迎佳; 杨奕清; 刘宗军
200062 上海中医药大学附属普陀医院心内科（李宁，刘宗军）；200030 上海交通大学附属胸科医院心内科（仇兴标）； 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（徐迎佳，杨奕清）
Author(s):
LI Ning1;  Qiu Xingbiao2;  XU Yingjia3;  YANG Yiqing3;  LIU Zongjun1
1. Department of Cardiology, Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200062; 2. Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030; 3. Department of Cardiology and Cardio
关键词:
心房颤动; 医学遗传学; 转录调节; PRRX1 基因; 报告基因分析
Keywords:
Atrial fibrillation;  Medical genetics;  Transcriptional regulation;  PRRX1;  Reporter gene assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2022.03.011
文献标识码:
-
摘要:
目的：探索特发性心房颤动（房颤）致病基因PRRX1 新突变并分析其功能。方法： 收集192 例特发性房颤患者和212 名健康者的外周静脉血标本，提取基因组DNA，测序分析 PRRX1 基因以发现致房颤突变。克隆PRRX1 基因，构建其野生型表达载体，通过定位诱变获 得突变体，转染Hela 细胞，通过双荧光报告基因分析其功能特性。结果：在其中1 例特发性 房颤患者发现PRRX1 基因新突变，即NM_022716.4: c.425T＞C; p.(Phe142Ser) 突变。该突变 不存在于212 名志愿者，也
Abstract:
Objective: To explore novel mutations in the causative gene PRRX1 in idiopathic atrial fibrillation (AF) and analyze its function. Methods: Peripheral venous blood samples were collected from 192 unrelated patients suffering from idiopathic AF and 212 unr

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备注/Memo

备注/Memo:
基金项目：国家自然科学基金（81470372）
通信作者：刘宗军， E-mail: lzj72@126.com
更新日期/Last Update: 2022-06-20