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; E Randy Craven; Val C Sheffield

doi:10.1126/science.275.5300.668

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Identification of a gene that causes primary open angle glaucoma

Journal article

Peer reviewed

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, …

Science (American Association for the Advancement of Science), Vol.275(5300), pp.668-670

01/31/1997

DOI: 10.1126/science.275.5300.668

PMID: 9005853

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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.

Mutation

Polymerase Chain Reaction

Cytoskeletal Proteins

Haplotypes

Chromosomes, Artificial, Yeast

Glaucoma, Open-Angle - genetics

Humans

Molecular Sequence Data

Male

Chromosome Mapping

Glycoproteins

Polymorphism, Single-Stranded Conformational

Chromosomes, Human, Pair 1

Pedigree

Trabecular Meshwork - metabolism

Base Sequence

Female

Eye Proteins - genetics

Sequence Tagged Sites

Genetic Linkage

Details

Title: Subtitle: Identification of a gene that causes primary open angle glaucoma
Creators: Edwin M Stone - Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
John H Fingert
Wallace L M Alward
Thai D Nguyen - University of California, San Francisco
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
E Randy Craven
Val C Sheffield
Resource Type: Journal article
Publication Details: Science (American Association for the Advancement of Science), Vol.275(5300), pp.668-670
DOI: 10.1126/science.275.5300.668
PMID: 9005853
NLM abbreviation: Science
ISSN: 0036-8075
eISSN: 1095-9203
Publisher: United States
Grant note: EY08905 / NEI NIH HHS EY10564 / NEI NIH HHS EY02477 / NEI NIH HHS
Language: English
Date published: 01/31/1997
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980300002771

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