先天性心脏病相关致病基因调控区变化的研究进展  

Advances in the changes of the regulatory regions of congenital heart disease related genes

作　　者：王凤[1] 李强[1] 

机构地区：[1]复旦大学附属儿科医院,上海201102

出　　处：《国际儿科学杂志》2017年第2期77-79,共3页International Journal of Pediatrics

摘　　要：先天性心脏病是指出生前就存在心脏及大血管结构或功能异常的一类疾病，严重威胁儿童健康。遗传因素在先天性心脏病发生发展中占据重要地位。越来越多的研究表明，除了基因编码区异常与先天性心脏病发病相关以外，先天性心脏病相关致病基因调控区变化也参与其发生。调控元件主要包括启动子、增强子、衰减子等。该文就调控区功能元件的变化与先天性心脏病发生关系进行综述，以期进一步阐述其发病机制，为临床诊疗提供新思路。Congenital heart disease is defined as a large group of structural and functional deficits that arise during cardiac embryogenesis,which poses serious threat to children＇s health. Genetic factors play an important role in the pathogenesis of congenital heart disease. Except for disease-related gene coding regions, recent research suggests that regulatory regions of these genes also participate in its occurrence. Regulatory elements include promoter, enhancer and attenuator, etc. This article reviews the relationship between the changes of these elements and the pathogenesis of congenital heart disease in order to better clarify the underlying mechanism and bring new ideas for clinical managements.

关 键 词：先天性心脏病 调控区 启动子 增强子 3’-非翻译区 

分 类 号：R725.4[医药卫生—儿科]