GENETICS OF ADULT-ONSET PRIMARY OPEN-ANGLE GLAUCOMA

描述：(摘自摘要)研究人员提议探索原发性开角型青光眼的分子生物学。他们已经将典型的成人高眼压开角型青光眼定位于染色体3q。他们报告说，他们的家人患有晚发性青光眼视神经病变。这表明他们的基因与开角型青光眼的研究可能比其他研究人员报道的更相关。他们认为，这些研究将是为青光眼提供诊断工具、改进药物治疗，并最终可能导致基因治疗的重要一步。他们提出了三个具体目标。首先，他们打算从有阳性开角型青光眼家族史的家庭收集数据和血液样本。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号染色体上的区域有关。他们将制定严格的标准来识别开角型青光眼。他们指出，现在已经绘制了三个基因座图。识别OAG映射到这些区域之一的家系将有助于提炼这些位置并阐明相关的表型。在特定的目标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。他们打算在3号染色体上的开角型青光眼区域使用饱和图谱技术来鉴定每个家族中的重组子。这一区域的基因也在小梁网络中表达，将成为首选候选基因。在特定的目标3中，他们打算使用全基因组作图策略来寻找没有定位到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.