1. Identification of a gene that causes primary open angle glaucoma.
- Author
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Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, and Sheffield VC
- Subjects
- Base Sequence, Chromosome Mapping, Chromosomes, Artificial, Yeast, Cytoskeletal Proteins, Female, Genetic Linkage, Haplotypes, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Sequence Tagged Sites, Chromosomes, Human, Pair 1, Eye Proteins genetics, Glaucoma, Open-Angle genetics, Glycoproteins, Trabecular Meshwork metabolism
- 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.
- Published
- 1997
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