MAPPING THE JUVENILE GLAUCOMA REGION ON CHROMOSOME 1

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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.