|本期目录/Table of Contents|

[1]乔祺 杨晨曦 顾佳宁 邸若岷 杨奕清 徐迎佳.散发性扩张型心肌病相关ISL1基因突变分析[J].国际心血管病杂志,2020,03:162-167.
　QIAO Qi,YANG Chenxi,GU Jianing,et al.Mutation of the ISL1 gene associated with sporadic dilated cardiomyopathy[J].International Journal of Cardiovascular Disease,2020,03:162-167.
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散发性扩张型心肌病相关ISL1基因突变分析(PDF)

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

期数:
2020年03期
页码:
162-167
栏目:
基础研究
出版日期:
2020-06-08

文章信息/Info

Title:
Mutation of the ISL1 gene associated with sporadic dilated cardiomyopathy
作者:
乔祺 杨晨曦 顾佳宁 邸若岷 杨奕清 徐迎佳
200240 上海,复旦大学附属上海市第五人民医院心内科,闵行区复杂心律失常中心,心血管研究室
Author(s):
QIAO Qi;  YANG Chenxi;  GU Jianing;  DI Ruomin;  YANG Yiqing;  XU Yingjia
Department of Cardiology, Minhang Center for Complex Cardiac Arrhythmias, Cardiovascular Research Laboratory, Shanghai Fifth People’s Hospital, Fudan University, Shanghai 200240, China
关键词:
扩张型心肌病;  遗传学;  转录调节;  ISL1;  基因突变;  报告基因分析
Keywords:
Dilated cardiomyopathy;  Genetics;  Transcriptional regulation;  ISL1;  Genetic mutation;  Reporter gene assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2020.03.009
文献标识码:
-
摘要:
目的:分析散发性扩张型心肌病(DCM)相关ISL1基因突变谱。方法:收集226例散发性DCM患者和230名相匹配的健康人的血标本,抽提DNA。通过聚合酶链反应-测序分析ISL1基因的编码外显子及侧翼内含子。对所发现的ISL1基因突变,应用ClustalW2软件评估突变氨基酸在进化上的保守性,应用在线程序MutationTaster、PolyPhen-2和PROVEAN预测突变的致病性,应用双荧光素酶报告基因分析系统评估突变的功能效应。结果:在1例散发性DCM患者的ISL1基因中检测出1个新的杂合错义突变(
Abstract:
Objective:To analyze the mutation spectrum of the ISL1 gene associated with sporadic dilated cardiomyopathy(DCM).Methods:Blood samples from 226 patients with sporadic DCM and 230 healthy individuals were collected, from which DNAs were extracted. The ent

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); 上海市闵行区自然科学基金(2018MHZ072); 上海市卫生健康委员会(201740064)
作者单位:200240 上海,复旦大学附属上海市第五人民医院心内科,闵行区复杂心律失常中心,心血管研究室
通信作者:徐迎佳,E-mail:xuyingjia@5thhospital.com
更新日期/Last Update: 2020-06-08