MAPPING THE JUVENILE GLAUCOMA REGION ON CHROMOSOME 1

描述（改编自研究者摘要）：青光眼是一种 人类失明的主要原因。然而，人们对它知之甚少。 疾病的基础。一种特殊类型的青光眼 由于原发性开角型青光眼已被证明是遗传性的， 在生命早期发生疾病的家庭数量。研究 这种青少年型青光眼的家族遗传 已经将导致这种疾病的基因定位在 1号染色体。第一条染色体上基因已被 本地化目前相当大（可能高达1000万 碱基对）。确定青少年青光眼基因的目标将 如果更多关于DNA物理结构的信息， 该区域和由该DNA编码的基因是可用的。的目标 该项目的目的是获得必要的DNA资源和绘图 信息，以更准确地确定少年的位置 青光眼基因，获得适合于在青光眼中寻找基因的DNA克隆。 区域，确定尽可能多的基因在该地区尽可能，并检查 这些基因在青少年青光眼患者中， 长期的目标是确定责任基因。实现这些 有效利用最先进的物理测绘将有助于实现这些目标 技术和开发一种新的基因鉴定方法。 发现一个与青少年青光眼有关的基因， 了解其他类型的青光眼和用于发现的方法 该基因可用于寻找其他基因， 人类疾病。

DESCRIPTION (Adapted from the Investigator's Abstract): Glaucoma is a major cause of blindness in humans. Yet, little is known about the underlying basis of the disease. A particular type of glaucoma known as primary open angle glaucoma has been shown to be inherited in a number of families in which the disease strikes early in life. Studies of the inheritance in these families of this juvenile type of glaucoma have localized a gene responsible for the disease to the long arm of chromosome 1. The region of chromosome 1 to which the gene has been localized is currently quite large (perhaps as large as 10 million basepairs). The goal of identifying the juvenile glaucoma gene would be advanced if more information about the physical structure of DNA in the region and the genes encoded by that DNA were available. The goals of this project are to obtain the necessary DNA resources and mapping information to more precisely define the location of the juvenile glaucoma gene, obtain DNA clones suitable for searching for genes in the region, identify as many genes in the region as possible, and examine these genes in individuals affected with juvenile glaucoma, with the long term aim of identifying the responsible gene. Attainment of these goals will be aided by efficient use of state-of-the-art physical mapping techniques and by development of a new gene identification method. Discovery of a gene involved in juvenile glaucoma could further our understanding of other types of glaucoma and the methods used to find the gene could be applied to finding other genes involved in important human diseases.