项目名称: 少汗型外胚叶发育不全综合征患者突变基因的分子生物学研究
项目编号: No.81500828
项目类型: 青年科学基金项目
立项/批准年度: 2016
项目学科: 医药、卫生
项目作者: 朱俊霞
作者单位: 北京大学
项目金额: 18万元
中文摘要: 少汗型外胚叶发育不全综合征是以少汗、毛发稀少、牙齿缺失、颅面发育异常为主要表现的一种综合征。其致病机理是上皮和间充质间信号传递的异常,多个基因的突变均可引起该疾病。本研究拟对患者EDA、EDAR、EDARADD基因进行突变检测,寻找相关基因的致病突变,研究表型和基因型间的关系,以利于遗传咨询。而对突变蛋白功能的研究可帮助我们更深入地研究其发病机制。本研究前期研究发现了EDA基因的复合型突变,以往未见报道,我们拟对该患者的突变蛋白进行研究,观察突变蛋白间是否有相互作用,在分子水平进一步研究其发病机制。
中文关键词: 少汗型外胚叶发育不全综合征;基因突变;分子生物学研究
英文摘要: Hypohidrotic ectodermal dysplasia(XLHED:MIM305100) is the most common form of ectodermal dysplasia characterized by the hypoplasia of ectoderm-derived organs. Its phenotype includes hypodontia, hypohidrosis, hypotrichosis and abnormal craniofacial development. The abnormal interaction of signaling molecular between the epithelial and mesenchymal tissues is related to this disease. The mutation of several genes, such as EDA, EDAR and EDARADD, can lead to this syndrome. In this study, we will analyze the coding sequence and partial intron sequence of EDA, EDAR and EDARADD gene by direct sequencing and study the relation between the phenotype and genotype of the patients. In our previous study, we found the complex mutation in a female patient and there was no report before. We will focus on the functional characterization of the mutant proteins and analyze the interaction of the mutant proteins in order to further study the mechanism of hypohidrotic ectodermal dysplasia.
英文关键词: hypohidrotic ectodermal dysplasia;gene mutaiton ;molecular biology research