Identification of the responsible gene(s) for congenital heart defect in Down syndrome.

唐氏综合征（Down syndrome， DS）是由染色体非整倍体引起的最常见的遗传性疾病，唐氏综合征患者的多种症状包括智力低下和特征性面容。然而，每种症状发生的负责基因及其分子机制尚未明确。本研究以唐氏综合征先天性心脏缺陷发生率较高的先天性心脏缺陷为研究对象，试图构建唐氏综合征先天性心脏缺陷（DS- chd）候选基因之一Zfp295基因敲除小鼠，阐明DS- chd的分子发病机制。

Down syndrome (DS) is the most common genetic disease caused by chromosomal aneuploidy, and variable symptoms including the mental retardation and the characteristic face are observed in patients with DS. However, the responsible genes for the incidences of each symptom and their molecular mechanisms have not been cleared. In this study, we focused on the congenital heart defect that is observed with relatively high frequency in DS, and tried to generate the knockout mice of Zfp295 that is one of the candidate genes for Down syndrome congenital heart defect (DS-CHD) to elucidate the molecular pathogenesis of DS-CHD.