|本期目录/Table of Contents|

[1]李文昭 徐迎佳 李若谷 曲新凯 杨奕清 仇兴标.特发性扩张型心肌病相关GATA6基因新突变的识别[J].国际心血管病杂志,2018,05:288-291.
　LI Wenzhao,XU Yingjia,LI Ruogu,et al.Identification of a novel GATA6 mutation associated with idiopathic dilated cardiomyopathy[J].International Journal of Cardiovascular Disease,2018,05:288-291.
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特发性扩张型心肌病相关GATA6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:
2018年05期
页码:
288-291
栏目:
临床研究
出版日期:
2019-02-01

文章信息/Info

Title:
Identification of a novel GATA6 mutation associated with idiopathic dilated cardiomyopathy
作者:
李文昭 徐迎佳 李若谷 曲新凯 杨奕清 仇兴标
Author(s):
LI Wenzhao;  XU Yingjia;  LI Ruogu;  QU Xinkai;  YANG Yiqing;  QIU Xingbiao.
Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, China
关键词:
扩张型心肌病;  分子遗传学;  转录因子;  GATA6;  突变
Keywords:
Dilated cardiomyopathy;  Molecular genetics;  Transcriptional factor;  GATA6;  Mutation
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2018.05.009
文献标识码:
-
摘要:
目的:识别特发性扩张型心肌病(DCM)相关GATA6基因新突变。方法:入选132例特发性DCM患者和220名健康对照者,收集其临床资料和外周静脉血,使用DNA纯化试剂盒抽提基因组DNA,采用聚合酶链反应试剂扩增GATA6基因的整个编码区,应用循环测序试剂盒对扩增的GATA6基因片段进行测序,将所测序列与Nucleotide数据库中的GATA6基因序列进行对比分析以识别GATA6基因突变。应用MUSCLE和MutationTaste在线系统评估突变氨基酸进化上的保守性和突变的致病性。结果:通过序列分析发现
Abstract:
Objective:To identify a novel GATA6 mutation associated with idiopathic dilated cardiomyopathy(DCM).Methods:In the present study, 132 unrelated cases with idiopathic DCM and 220 unrelated healthy control individuals were recruited. The clinical data and t

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(81470372)
作者单位:200030 上海交通大学附属胸科医院心内科
通信作者:仇兴标,Email:qiuxingbiao@hotmail.com
更新日期/Last Update: 2018-09-30