GENETICS OF ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA

描述：（来自摘要）本研究拟探讨原发性开角型青光眼的分子生物学。他们将典型的高眼压成人开角型青光眼的表型定位于染色体3q。他们报告说，他们的家庭有晚发性青光眼视神经病变。这表明他们的基因可能比其他研究者报道的基因与开角型青光眼的研究更相关。他们认为，这些研究将是提供青光眼诊断工具、改进药物治疗，并可能最终导致基因治疗的重要一步。他们提出了三个具体目标。首先，他们打算从有开角型青光眼家族史的家庭中收集数据和血液样本。他们打算确定这些家族的开角型青光眼是否与染色体1、2或3上的区域有关。他们将制定严格的标准来鉴别开角型青光眼。他们指出，现在已经绘制了三个基因座。确定OAG映射到这些区域之一的家庭将有助于完善这些位置并澄清相关表型。在具体目标2中，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。他们打算利用3号染色体开角青光眼区域的饱和定位技术来识别每个家族中的重组体。该区域的基因在小梁网络中也表达，将成为主要的候选基因。在具体目标3中，他们打算使用全基因组定位策略寻找不定位于1、2或3的OAG家族。

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.