GENETICS OF ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA

成人原发性开角型青光眼的遗传学

• 批准号: 2406485
• 负责人: Mary K Wirtz
• 金额: $ 24.08万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-08-01 至 2000-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2406485
• 关键词: adult human (21+); clinical research; family genetics; gene mutation; genetic recombination; glaucoma; glaucoma test; human subject; linkage mapping; phenotype; trabecular meshwork

DESCRIPTION: (from the abstract) The investigator proposes to explore the molecular biology of primary open angle glaucoma. They have mapped phenotypically classically high intraocular pressure adult onset open angle glaucoma to chromosome 3q. They report that their families have late onset glaucomatous optic neuropathy. This suggests that their gene may be more relevant to the study of open angle glaucoma than those reported by other investigators. They suggest that these investigations will be an important step in providing a diagnostic tool for glaucoma, improving drug therapy, and perhaps leading eventually to gene therapy. They propose three specific aims. First, they intend to gather data and blood samples from families with a positive open angle glaucoma family history. They intend to determine if open angle glaucoma in these families is linked to regions on chromosome 1, 2 or 3. They will lay out rigorous criteria for identifying open angle glaucoma. They note that three loci have now been mapped. Identifying families in which OAG maps to one of these regions will help to refine these locations and clarify the associated phenotypes. In specific aim 2, they intend to narrow the open angle glaucoma region on chromosome 3 and identify candidate genes. They intend to use the technique of saturation mapping over the open angle glaucoma region on chromosome 3 to identify recombinants in each family. Genes in this region that are also expressed in the trabecular meshwork will become prime candidate genes. In specific aim 3, they intend to look for OAG families which do not localize to 1, 2 or 3, using a genome wide mapping strategy.

描述：(从摘要开始)调查员提议探索 原发性开角型青光眼的分子生物学研究。他们已经绘制了 典型的典型高眼压成人起病张角 青光眼到染色体3Q。他们报告说，他们的家人发病较晚 青光眼视神经病变。这表明他们的基因可能比 与开角型青光眼研究的相关性比其他报道的要高 调查人员。他们表示，这些调查将是一项重要的 为青光眼提供诊断工具，改进药物治疗， 也许最终会导致基因疗法的出现。他们提出了三个具体的建议 目标。首先，他们打算从家庭中收集数据和血液样本 有阳性开角型青光眼家族史。他们打算 确定这些家系中的开角型青光眼是否与 1、2或3号染色体。他们将制定严格的标准 开角型青光眼。他们指出，现在已经绘制了三个基因座图。 确定OAG映射到这些地区之一的家庭将有助于 细化这些位置并阐明相关的表型。具体而言 目标2，他们打算缩小3号染色体上的开角型青光眼区域 并确定候选基因。他们打算使用的技术是 3号染色体上开角型青光眼区域的饱和图谱 确定每个家族中的重组子。这一区域的基因也是 在小梁网络中表达的基因将成为首选候选基因。在……里面 具体目标3，他们打算寻找没有本地化的OAG家庭 到1、2或3，使用全基因组图谱策略。