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（根据研究者的摘要改编）：青光眼是 人类失明的主要原因。但是，关于 该疾病的基础。已知的特殊类型的青光眼 由于主要的开角型青光眼已显示在A中遗传 疾病早期袭击的家庭数量。研究 这些少年类型青光眼的遗传 已经将负责该疾病的基因定位到长臂 染色体1。基因已成为的染色体1的区域 本地化目前很大（可能大于1000万 底部）。识别青少年青光眼基因的目的 如果有关DNA的物理结构的更多信息，请进步 该DNA编码的区域和基因可用。目标 该项目的内容是获得必要的DNA资源和映射 信息以更精确地定义少年的位置 青光眼基因获得适用于搜索基因的DNA克隆 区域，识别该地区尽可能多的基因，并检查 这些基因在受青少年青光眼影响的个体中， 识别负责基因的长期目标。达成这些 有效利用最先进的物理映射将有助于目标 技术并通过开发新的基因识别方法。 发现与青少年青光眼有关的基因可以进一步 了解其他类型的青光眼和用于查找的方法 该基因可以应用于查找与重要的其他基因 人类疾病。