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[1]徐惠玉,严梓,杨奕清,等.先天性室间隔缺损致病基因SOX18新突变的发现及功能研究[J].国际心血管病杂志,2023,05:307-312.
　XU HuiyuYAN ZiYANG YiqingLIU Xingyuan..Discovery and functional exploration of a novel SOX18 mutation predisposing to congenital ventricular septal defect[J].International Journal of Cardiovascular Disease,2023,05:307-312.
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先天性室间隔缺损致病基因SOX18新突变的发现及功能研究(PDF)

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

期数:
2023年05期
页码:
307-312
栏目:
出版日期:
2023-09-01

文章信息/Info

Title:
Discovery and functional exploration of a novel SOX18 mutation predisposing to congenital ventricular septal defect
作者:
徐惠玉1; 严梓2; 杨奕清3; 刘兴元2
1.201803 上海市第一人民医院嘉定医院， 上海市嘉定区江桥医院儿科（徐惠玉）;2.200065 同济大学医学院附属同济医院儿科（严梓，刘兴元）;3.200240 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):
XU Huiyu1; YAN Zi2; YANG Yiqing3; LIU Xingyuan2.2
1.Pediatrics, Jiading Branch of Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai? 201803;2.Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai? 200065;3.Department of Cardiology, C
关键词:
先天性室间隔缺损; 遗传学; 转录调节; SOX18基因; 生化分析
Keywords:
Congenital ventricular septal defect;  Genetics;  Transcriptional regulation; SOX18;  Biological assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2023.05.011
文献标识码:
-
摘要:
目的：探讨先天性室间隔缺损致病基因SOX18的新突变。方法：收集156例先天性心脏病患儿和216名无先天性心脏病对照者的临床数据和血液样本，提取基因组DNA，测序分析SOX18基因以识别新的致病突变。克隆SOX18基因，构建野生型SOX18表达载体，通过定点诱变产生突变型SOX18表达载体，转染HeLa细胞，应用双报告基因定量分析突变体的功能。结果：在1例散发性先天性室间隔缺损患儿中发现SOX18基因新突变，即NM_018419.3:c.430C＞T;p.(Gln144*)突变。该突变不存在于其他先天
Abstract:
Objective: To explore a novel SOX18 mutation contributing to congenital ventricular septal defect.? Methods: In the present investigation, the clinical data and blood samples were collected from 156 children suffering from congenital heart disease and 2

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: 2023-09-01