HYPOHIDROTIC ECTODERMAL DYSPLASIA GENE

少汗性外胚层发育不良基因

• 批准号: 2292620
• 负责人: JONATHAN ZONANA
• 金额: $ 1.15万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-03-07 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/2292620
• 关键词: HYPOHIDROTIC; ECTODERMAL; DYSPLASIA; GENE

The proposed research is part of an on-going collaborative effort to isolate and characterize the X-linked hypohidrotic ectodermal dysplasia (EDA) gene. EDA, an X linked disorder characterized by the congenital absence of hair, teeth, and eccrine sweat glands, is hypothesized to be due to a defect in epithelial-mesenchymal interactions during morphogenesis. Identification of the EDA gene and the mutations within it are of medical significance for the diagnosis and counseling of families with EDA, the most common form of ectodermal dysplasia. Its characterization will assist in our understanding of the biologic mechanisms and pathways, largely unknown, involved in epithelial- mesenchymal reciprocal interactions during differentiation of the epidermal and oral ectoderm. The goal of the project is to isolate candidates genes for the EDA locus by the method of positional cloning.The disorder has been mapped to a 200-300 kb region of the X chromosome (Xq13.1), and genomic clones will be isolated from the EDA critical region by an analysis of patients previously identified with molecular rearrangements. These clones will be screened for expressed sequences, and used to isolate candidate genes from cDNA libraries. The candidate gene will be tested to prove it is truly the EDA gene by the identification of mutations within it by screening >130 unrelated affected individuals. A detailed analysis of the nature and site of mutations within the EDA gene will then be undertaken.

拟议的研究是正在进行的合作努力的一部分 X连锁少汗性外胚层发育不良的分离和表征 （EDA）基因。 EDA，一种 X 连锁疾病，其特征是先天性 假设没有头发、牙齿和小汗腺 由于上皮间质相互作用的缺陷 形态发生。 EDA基因及其突变的鉴定 对于疾病的诊断和咨询具有重要的医学意义 患有 EDA 的家庭，EDA 是最常见的外胚层发育不良。它是 表征将有助于我们了解生物 很大程度上未知的机制和途径，涉及上皮细胞 分化过程中间充质的相互作用 表皮和口腔外胚层。该项目的目标是隔离 通过位置定位方法寻找 EDA 基因座的候选基因 克隆。该疾病已被定位到 X 的 200-300 kb 区域 染色体 (Xq13.1) 和基因组克隆将从 EDA 中分离 通过对先前确定的患者进行分析来确定关键区域 分子重排。将筛选这些克隆的表达 序列，并用于从 cDNA 文库中分离候选基因。这 候选基因将被测试以证明它确实是 EDA 基因 通过筛选 >130 个不相关的突变来识别其中的突变 受影响的个人。详细分析其性质和地点 然后将进行 EDA 基因内的突变。