项目名称: MeCP2基因及其所在染色体Xq28区域基因序列重复在孤独症发病机制中的作用研究
项目编号: No.30872802
项目类型: 面上项目
立项/批准年度: 2009
项目学科: 轻工业、手工业
项目作者: 郗春艳
作者单位: 中国医科大学
项目金额: 30万元
中文摘要: 孤独症以男性发病占绝对优势,因此X连锁基因的作用始终是人们关注的热点。连锁分析显示染色体Xq28区域可能存在孤独症的易感基因,其中MeCP2基因近年来受到人们的高度关注。我们前期的研究以及相关的报道显示孤独症存在MeCP2基因的表达异常,但碱基突变并不是其主要的作用机制,而明确这一机制可能是探索孤独症发病机制的重要途径之一。新近的研究表明MeCP2基因及其周围染色体区域基因序列重复(Duplication)是男性神经发育障碍的重要机制之一,因此本研究拟对孤独症患儿进行MeCP2基因及其所在的Xq28区域DNA序列重复(Duplication)的研究,明确孤独症MeCP2基因及其Xq28区域基因序列重复的特征,并对其相关意义进行探讨。研究结果有助于进一步探索孤独症的发病机制,为其易感基因的确定提供信息,并可能为孤独症高危人群的检测提供重要依据和实验方法。
中文关键词: 孤独症;序列重复;MeCP2基因; Xq28
英文摘要: Autism is much more common in males than females, which has focused the attention of researchers on X-linked genes. Moreover, genome screens have indicated that there may be autistic alleles in Xq28, and MeCP2 gene is the most important candidate gene in this region. Abnormal expression of MeCP2 gene was observed in autistic brains, though previous studies, together with ours, didn't find functional mutations of MeCP2 gene in autistic patients, suggesting that other types of mechanisms may play a major role in the aetiology of autism. It has been considered in recent years that duplication is associated with male neurodevelopmental disorders.Based on these evidences, we will explore the association of duplication in Xq28 region as well as duplications of MeCP2 gene with autism. The result may provide new evidence for the identification of autistic candidate genes and the define of novel disease-associated mechanisms such as gene duplications with autism.
英文关键词: autism; duplication; MeCP2; Xq28