Identification of a gene that causes primary open angle glaucoma

Edwin M. Stone, John H. Fingert, Wallace L M Alward, Thai D. Nguyen, Jon R. Polansky, Sara L F Sunden, Darryl Nishimura, Abbot F. Clark, Arne Nystuen, Brian E. Nichols, David A. Mackey, Robert Ritch, Jeffrey W. Kalenak, Earl Randy Craven, Val C. Sheffield

Research output: Contribution to journalArticle

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 mesh-work 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.

Original languageEnglish (US)
Pages (from-to)668-670
Number of pages3
JournalScience
Volume275
Issue number5300
DOIs
StatePublished - Jan 31 1997
Externally publishedYes

Fingerprint

Sequence Tagged Sites
Mutation
Glaucoma
Genes
Radiation Hybrid Mapping
Open Angle Glaucoma
Blindness
Optic Nerve
Intraocular Pressure
Haplotypes
Early Diagnosis
Chromosomes
Primary Open Angle Glaucoma
Population
Therapeutics
trabecular meshwork-induced glucocorticoid response protein

ASJC Scopus subject areas

  • General

Cite this

Stone, E. M., Fingert, J. H., Alward, W. L. M., Nguyen, T. D., Polansky, J. R., Sunden, S. L. F., ... Sheffield, V. C. (1997). Identification of a gene that causes primary open angle glaucoma. Science, 275(5300), 668-670. https://doi.org/10.1126/science.275.5300.668

Identification of a gene that causes primary open angle glaucoma. / Stone, Edwin M.; Fingert, John H.; Alward, Wallace L M; Nguyen, Thai D.; Polansky, Jon R.; Sunden, Sara L F; Nishimura, Darryl; Clark, Abbot F.; Nystuen, Arne; Nichols, Brian E.; Mackey, David A.; Ritch, Robert; Kalenak, Jeffrey W.; Craven, Earl Randy; Sheffield, Val C.

In: Science, Vol. 275, No. 5300, 31.01.1997, p. 668-670.

Research output: Contribution to journalArticle

Stone, EM, Fingert, JH, Alward, WLM, Nguyen, TD, Polansky, JR, Sunden, SLF, Nishimura, D, Clark, AF, Nystuen, A, Nichols, BE, Mackey, DA, Ritch, R, Kalenak, JW, Craven, ER & Sheffield, VC 1997, 'Identification of a gene that causes primary open angle glaucoma', Science, vol. 275, no. 5300, pp. 668-670. https://doi.org/10.1126/science.275.5300.668
Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668-670. https://doi.org/10.1126/science.275.5300.668
Stone, Edwin M. ; Fingert, John H. ; Alward, Wallace L M ; Nguyen, Thai D. ; Polansky, Jon R. ; Sunden, Sara L F ; Nishimura, Darryl ; Clark, Abbot F. ; Nystuen, Arne ; Nichols, Brian E. ; Mackey, David A. ; Ritch, Robert ; Kalenak, Jeffrey W. ; Craven, Earl Randy ; Sheffield, Val C. / Identification of a gene that causes primary open angle glaucoma. In: Science. 1997 ; Vol. 275, No. 5300. pp. 668-670.
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