|本期目录/Table of Contents|

[1]董斌斌 刘兴元 杨奕清.先天性心脏缺损相关NR2F2基因新突变研究[J].国际心血管病杂志,2019,04:235-238.
　DONG Binbin,LIU Xingyuan,YANG Yiqing.Investigation of a new NR2F2 mutation responsible for congenital heart defect[J].International Journal of Cardiovascular Disease,2019,04:235-238.
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先天性心脏缺损相关NR2F2基因新突变研究(PDF)

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

期数:
2019年04期
页码:
235-238
栏目:
临床研究
出版日期:
2019-09-27

文章信息/Info

Title:
Investigation of a new NR2F2 mutation responsible for congenital heart defect
作者:
董斌斌 刘兴元 杨奕清
201907 上海,复旦大学附属华山医院北院儿科(董斌斌); 200065 上海,同济大学附属同济医院儿科(刘兴元);
Author(s):
DONG Binbin1;  LIU Xingyuan2;  YANG Yiqing3
1. Department of Pediatrics, North Huashan Hospital, Fudan University, Shanghai 201907; 2. Department of Pediatrics, Tongji Hospital, Tongji University, Shanghai 200065; 3. Department of Cardiovascular Research, the Fifth People's Hospital of Shanghai, Fu
关键词:
先天性心脏缺损;  分子遗传学;  转录因子;  NR2F2;  突变
Keywords:
Congenital heart defect;  Molecular genetics;  Transcriptional factor;  NR2F2;  Mutation
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2019.04.013
文献标识码:
-
摘要:
目的:探索先天性心脏缺损(CHD)相关NR2F2基因新突变。方法:入选104例中国汉族CHD患者和208名匹配的非CHD对照者。对全部入选对象的NR2F2基因的编码区、剪接位点及部分非翻译区进行聚合酶链反应-测序分析。将所测序列与核苷酸数据库中公布的NR2F2序列进行对比分析以发现NR2F2基因突变。运用计算机软件ClustalW2分析突变氨基酸进化上的保守性,应用PROVEAN、MutationTaster和PolyPhen-2软件预测突变的致病性。结果:在1例散发性动脉导管未闭合并室间隔缺损患者中发现
Abstract:
Objective:To investigate a new NR2F2 mutation involved in the pathogenesis of congenital heart defect(CHD).Methods:One hundred and four unrelated patients of Han nationality with CHD and 208 non-CHD control subjects were recruited. The coding regions, spl

参考文献/References

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金项目(81470372); 上海市自然科学基金项目(16ZR1432500)
作者单位:201907 上海,复旦大学附属华山医院北院儿科(董斌斌); 200065 上海,同济大学附属同济医院儿科(刘兴元); 200240 上海,复旦大学附属上海市第五人民医院心血管研究室(杨奕清)
通信作者:刘兴元,Email:liuxingyuan402@163.com
更新日期/Last Update: 2019-09-27