唐氏综合征合并先天性心脏病相关基因的研究进展

Research progresses on genes related to Down's syndrome complicated with congenital heart disease

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.