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

期数:

2023年06期

页码:

396-400

栏目:

临床研究

出版日期:

2023-11-20

文章信息/Info

Title:

Identification and functional assessment of a novel SOX18 mutation predisposingto congenital patentductusarteriosus

作者:

董斌斌; 冒山林; 陈果; 刘兴元; 杨奕清

200040 上海，复旦大学附属华山医院儿科（董斌斌），急重症医学科（冒山林）；810099 西宁，青海红 十字医院儿科（陈果）；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 第五人民医院心内科、心血管研究室、中心实验室（杨奕清）

Author(s):

DONG Binbin¹;  MAO Shanlin²;  CHEN Guo³;  LIU Xingyuan⁴; YANG Yiqing⁵

1.Department of Pediatrics,Huashan Hospital,Fudan University,Shanghai 200040;2.Department of Emergency and Critical Care Medicine,Huashan Hospital,Fudan University,Shanghai 200040;3.Department of Pediatrics,Qinghai Red Cross Hospital,Xining 810099;4.Depar

关键词:

动脉导管未闭; 医学遗传学; SOX18 基因; 定位诱变; 报告基因分析

Keywords:

Patent ductus arteriosus;  Medical genetics;  SOX18 gene;  Site-directed mutagenesis;  Reporter gene assay

分类号:

-

DOI:

10.3969/j.issn.1673-6583.2023.06.015

文献标识码:

-

摘要:

目的：探索先天性动脉导管未闭致病基因SOX18 新突变。 方法：入选134 例 散发性先天性动脉导管未闭（PDA）患儿和202 名性别匹配的同种族健康者，对其SOX18 基因进行Sanger 测序分析以寻找致病新突变。克隆SOX18 基因，构建野生型SOX18 真核表 达质粒，通过定点诱变制备突变型SOX18 真核表达质粒，脂质体转染HeLa 细胞后，双报告基 因定量分析突变的功能效应。 结果：在1 例散发性先天性PDA 患儿中发现了SOX18 基因 新突变，即NM_018419.3:c.313C＞T;p

Abstract:

Objective: To explore a new mutation in the SOX18 gene underpinning congenital patent ductus arteriosus. Methods: 134 children suffering from sporadiccongenital patent ductus arteriosus and 202 sex- and ethnicity-matched healthy children were recruited. S

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

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更新日期/Last Update: 2023-11-20