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

鉴定唐氏综合症先天性心脏病的相关基因。

• 批准号: 21791007
• 负责人: MIYAMOTO Ken-ichi
• 金额: $ 2.75万
• 依托单位: Keio University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21791007/
• 关键词: ダウン症; 心奇形; ノックアウトマウス; Zfp295; zinc finger protein 295; DS-CHD MCR; ダウン症モデルマウス; ヒト21番染色体; マウス16番染色体; tryptophan rich basic protein

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.

唐氏综合症（DS）是由染色体非整倍体引起的最常见的遗传病，DS患者会出现智力低下、面部特征性等多种症状。然而，每种症状发生的相关基因及其分子机制尚未明确。本研究针对DS中出现频率较高的先天性心脏缺陷，尝试构建唐氏综合症先天性心脏缺陷（DS-CHD）候选基因之一Zfp295的敲除小鼠，以阐明DS-CHD的分子发病机制。