MAPPING THE JUVENILE GLAUCOMA REGION ON CHROMOSOME 1

绘制青少年青光眼 1 号染色体区域图

• 批准号: 2701431
• 负责人: Douglas E. Vollrath
• 金额: $ 29.09万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1996
• 资助国家: 美国
• 起止时间: 1996-05-01 至 1999-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2701431
• 关键词: DNA; autosomal dominant trait; chromosomes; gene expression; genetic mapping; genetic markers; glaucoma; human genetic material tag; human tissue; linkage mapping; molecular cloning; nucleic acid hybridization; polymerase chain reaction; pulsed field gel electrophoresis; southern blotting

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.

描述：青光眼是一种 人类失明的主要原因。然而，人们对这一现象知之甚少 这种疾病的潜在基础。已知的一种特殊类型的青光眼 由于原发性开角型青光眼被证明是遗传的 这种疾病在生命早期发作的家庭数量。研究 这种幼年型青光眼的家族遗传 已经将导致这种疾病的基因定位到 1号染色体。基因所在的1号染色体区域 本地化目前相当大(可能高达1000万 基准点)。识别青少年青光眼基因的目标是 如果有关DNA的物理结构的更多信息在 该DNA所编码的区域和基因是可用的。目标 这个项目的目的是获得必要的DNA资源和作图 更准确地定义青少年所在位置的信息 青光眼基因，获得适合于搜索青光眼基因的DNA克隆 区域，识别该区域中尽可能多的基因，并检查 这些基因在青少年青光眼患者中具有 确定负责基因的长期目标。实现这些目标 目标将通过有效使用最先进的物理映射来帮助实现 技术和开发一种新的基因鉴定方法。 一种与青少年青光眼有关的基因的发现可能会进一步 对其他类型青光眼的认识和发现青光眼的方法 该基因可用于寻找与重要基因相关的其他基因 人类疾病。