摘要
唐氏综合征(Down syndrome,DS)是由21-三体引起的一种遗传综合征。约50%的DS患儿合并不同类型的先天性心脏病(congenital heart disease,CHD),其发病机制尚未阐明。目前已知的在DS合并CHD的发病中起关键作用的基因包括DSCAM(Down syndrome cell adhesion molecule)、RCAN1(regulator of calcineurin 1)、COL6 A1~2(collagen typeⅥalpha 1-2chain)、CRELD1(cysteine rich with EGF like domains 1)、ALK2(activin-like kinase 2)及KCNJ6(potassium voltage-gated channel subfamily J member 6)。以上基因的致病机制主要涉及两种假说,即基因剂量效应假说和基因突变假说。本文主要阐述DS合并CHD相关基因的作用机制及其相应的先心病类型,为DS合并CHD的病因学研究提供参考。
Down's syndrome(DS)is a genetic syndrome caused by trisomy 21 abnormality.About 50% of DS children are complicated with different types of congenital heart disease(CHD),and the pathogenesis of DS-CHD has not been elucidated.So far,genes that play key role in the pathogenesis of DS-CHD include DSCAM(Down's syndrome cell adhesion molecule),RCAN1(regulator of calcineurin 1),COL6 A1-A2(collagen typeⅥalpha 1-2 chain),CRELD1(cysteine rich with EGF like domains 1),ALK2(activin-like kinase2),and KCNJ6(potassium voltage-gated channel subfamily J member 6).The pathogenesis of the above genes mainly involves two hypotheses:the gene dose effect hypothesis and the gene mutation hypothesis.This review mainly discusses the mechanism of DS-CHD related genes and the corresponding types of CHD,so as to provide reference for the etiology study of DS-CHD.
作者
周园
张斌
ZHOU Yuan;ZHANG Bin(Department of Obstetrics,Obstetrics and Gynecology Hospital of Fudan University,Shanghai 200011,China)
出处
《中国临床医学》
2018年第3期487-491,共5页
Chinese Journal of Clinical Medicine
关键词
唐氏综合征
先天性心脏病
基因
Down's syndrome
congenital heart disease
gene