|本期目录/Table of Contents|

[1]郑洪珍,仇兴标,李若谷,等.特发性心房颤动相关TBX5基因新突变的识别[J].国际心血管病杂志,2016,03:167-171.
　ZHENG Hongzhen,QIU Xingbiao,LI Ruogu,et al.Identification of a novel TBX5 mutation associated with idiopathic atrial fibrillation[J].International Journal of Cardiovascular Disease,2016,03:167-171.
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特发性心房颤动相关TBX5基因新突变的识别(PDF)

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

期数:
2016年03期
页码:
167-171
栏目:
出版日期:
2016-05-20

文章信息/Info

Title:
Identification of a novel TBX5 mutation associated with idiopathic atrial fibrillation
作者:
郑洪珍; 仇兴标; 李若谷; 袁方; 徐迎佳; 杨奕清
200030 上海交通大学附属胸科医院心内科
Author(s):
ZHENG Hongzhen;  QIU Xingbiao;  LI Ruogu;  YUAN Fang;  XU Yingjia;  YANG Yiqing.
Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China
关键词:
心律失常; 心房颤动; 遗传学; 转录因子; TBX5
Keywords:
Cardiac arrhythmia;  Atrial fibrillation;  Genetics;  Transcription factor;  TBX5
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2016.03.011
文献标识码:
-
摘要:
目的:识别特发性心房颤动(房颤)相关TBX5基因新突变。方法:入选特发性房颤患者116例及健康对照者200名,获取临床资料和外周静脉血标本,抽提全部研究对象的基因组DNA,扩增TBX5基因的全部编码外显子及其侧翼内含子,对扩增片段进行测序以寻找变异。检索PubMed和SNP数据库以明确所发现基因变异的新颖性。应用MUSCLE软件分析多物种TBX5蛋白,以显示被改变氨基酸在进化上的保守性,并应用在线程序MutationTaster和PolyPhen-2分析基因变异的致病性。结果:在1例家族史阴性的特发性房颤
Abstract:
Objective:To identify a novel TBX5 mutation associated with idiopathic atrial fibrillation(AF).Methods:A cohort of 116 unrelated patients with idiopathic AF and a total of 200 unrelated healthy individuals used as controls were enlisted. The clinical data

参考文献/References

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金(81270162, 81470372, 81400244) 作者单位:200030 上海交通大学附属胸科医院心内科 通信作者:杨奕清,Email: dryyq@tongji.edu.cn
更新日期/Last Update: 2016-05-20