Identification of a Gene That Causes Primary Open Angle Glaucoma-Reference-Cited by-同舟云学术

Identification of a Gene That Causes Primary Open Angle Glaucoma

Published:1997-01-31 Issue:5300 Volume:275 Page:668-670
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Stone Edwin M.¹,Fingert John H.¹,Alward Wallace L. M.¹,Nguyen Thai D.²,Polansky Jon R.²,Sunden Sara L. F.³,Nishimura Darryl³,Clark Abbot F.⁴,Nystuen Arne³,Nichols Brian E.¹,Mackey David A.⁵,Ritch Robert⁶,Kalenak Jeffrey W.⁷,Craven E. Randy⁸,Sheffield Val C.³

Affiliation:

1. E. M. Stone, J. H. Fingert, W. L. M. Alward, B. E. Nichols, Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA.

2. T. D. Nguyen and J. R. Polansky, Department of Ophthalmology, University of California, San Francisco, CA 94143-0730, USA.

3. S. L. F. Sunden, D. Nishimura, A. Nystuen, V. C. Sheffield, Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IA 52242, USA.

4. A. F. Clark, Alcon Laboratories, Incorporated, Fort Worth, TX 76134, USA.

5. D. A. Mackey, Department of Ophthalmology, University of Melbourne, Melbourne 3002, Australia, and The Menzies Centre, University of Tasmania, Hobart, Tasmania.

6. R. Ritch, Department of Ophthalmology, New York Eye and Ear Infirmary, New York, NY 10003, USA.

7. J. W. Kalenak, Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

8. E. R. Craven, Department of Ophthalmology, University of Colorado School of Medicine, Denver, CO 80262, USA.

Abstract

Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma ( GLC1A ) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein ( TIGR ) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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