文档介绍：doi:.61005 Published 2012
Anthropology
xyz
REVIEW
ic mechanisms of Notch signaling
pathway in human Congenital Heart Defects
Jue Wang
School of Life Sciences, Fudan University, Shanghai 200433, China
Email: juer520@
Received: , 2011; Revised: Dec. 20, 2011; Accepted: Jan. 17, 2012.
Abstract: Congenital Heart Defects (CHDs) is the birth defect ranked number one in the world.
The incidence of this disease is rising in China currently. Notch signaling pathway is a highly
conserved signaling pathway. It is involved in many steps in heart development, such as myocardial
differentiation, formation of atrioventricular junction, valve development, formation of ventricular
trabeculation, and outflow tract remodeling. Here, we reviewed the ic mechanisms of Notch
signaling pathway in human CHDs, investigated the impact of Notch gene abnormalities or
variations on the generation of CHDs.
Key words: Congenital Heart Defects, Notch signaling pathway, Notch target gene, modern ics
现代人类学通讯
2012 年第六卷第 30-33 页专题综述
Notch 信号通路在人类先天性心脏病中的
遗传机制
王珏
复旦大学生命科学学院,上海 200433
摘要:先天性心脏病是排名第一的出生缺陷,目前在中国的发病率还在不断上升。 Notch 信号通路是一个高
度保守的信号途径,它涉及到心脏发育中的很多步骤,有心肌分化、房室管边界形成、瓣膜发育、心室小梁
形成以及流出道重塑。本篇文章就 Notch 信号在人类先天性心脏病中的遗传机制进行分析,来探讨 Notch 基
因的异常或变异对先心病产生的影响。
关键词:先天性心脏病;Notch 信号通路;Notch 靶基因;现代遗传学
一、先天性心脏病简介
先天性心脏病是最常见的出生缺陷之一,
世界上有近 1-2%的孩子患有该病,且先心病
是导致 1 岁以下