|本期目录/Table of Contents|

[1]陈春英,刘兴元,杨奕清.先天性房间隔缺损致病基因KLF13新突变的 识别与功能分析[J].国际心血管病杂志,2023,02:108-112.
　CHEN Chunying,LIU Xingyuan,YANG Yiqing..Identification and functional assay of a new KLF13 mutation underpinning congenital atrial septal defect[J].International Journal of Cardiovascular Disease,2023,02:108-112.
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先天性房间隔缺损致病基因KLF13新突变的 识别与功能分析(PDF)

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

期数:
2023年02期
页码:
108-112
栏目:
临床研究
出版日期:
2023-03-20

文章信息/Info

Title:
Identification and functional assay of a new KLF13 mutation underpinning congenital atrial septal defect
作者:
陈春英; 刘兴元; 杨奕清
200065 上海，同济大学医学院附属同济医院儿科 （陈春英，刘兴元）；200240 上海，复旦大学附属上海市第五人民 医院心内科、心血管研究室、中心实验室（杨奕清）
Author(s):
CHEN Chunying1;  LIU Xingyuan1;  YANG Yiqing2.
1. Department of Pediatrics, Tongji University School of Medicine, Shanghai 200065; 2. Department of Cardiology, Cardiovascular Research Laboratory, and Central Laboratory, Shanghai Fifth People′s Hospital,Fudan University, Shanghai 200240, China
关键词:
房间隔缺损; 分子遗传学; 转录调节; KLF13 基因; 报告基因分析
Keywords:
Atrial septal defect;  Molecular genetics;  Transcriptional regulation;  KLF13;  Reporter gene assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2023.02.012
文献标识码:
-
摘要:
目的：探索房间隔缺损致病基因KLF13 新突变。 方法：对175 例先天性房间 隔缺损患儿和217 名健康者的KLF13 基因进行测序分析以发现新的致病突变。克隆KLF13 基因，构建野生型KLF13 表达质粒KLF13-pcDNA3.1，通过定位诱变获得突变型KLF13- pcDNA3.1，转染NIH3T3 细胞，通过报告基因分析研究突变体的功能特性。 结果：在1 例散 发性先天性房间隔缺损患儿发现KLF13 基因新突变，即NM_015995.4: c.85G＞T; p.(Glu29*) 突变。该突变不
Abstract:
Objective: To investigate a novel mutation in the KLF13 gene predisposing to congenital atrial septal defect. Methods: Sequencing analysis of KLF13 was performed in 175 children affected with congenital atrial septal defect and 217 healthy subjects for a

参考文献/References

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备注/Memo

备注/Memo:
基金项目：上海市自然科学基金（16ZR1432500） 通信作者：刘兴元， E-mail：liuxingyuan402@tongji.edu.cn
更新日期/Last Update: 2023-03-20