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The Taa1 Restriction Enzyme Provides a Simple Means to Identify the Q368STOP Mutation of the Myocilin Gene in Primary Open Angle Glaucoma
journal contribution
posted on 2023-05-16, 13:20 authored by Baird, PN, Joanne DickinsonJoanne Dickinson, Craig, JE, David MackeyDavid MackeyPURPOSE: To identify a rapid and reliable method to detect the Glutamine 368 STOP (Q368STOP) disease-predisposing allele of the myocilin gene associated with adult onset, primary, open-angle glaucoma. METHODS: Individuals with the Q368STOP mutation of the myocilin gene were identified from a cohort of primary open-angle glaucoma patients from Tasmania and subjected to Taa1 restriction digestion. RESULTS: In the Tasmanian family presented, screening with the Taa1 restriction enzyme successfully confirmed identification of all individuals with the Q368STOP mutation. CONCLUSIONS: The use of the Taa1 restriction enzyme offers a relatively simple, rapid, and reproducible technique that could be applied to detect the Q368STOP mutation of the myocilin gene. Copyright © 2001 Elsevier Science Inc.
History
Publication title
American Journal of OphthalmologyVolume
131Issue
4Pagination
510-511ISSN
0002-9394Department/School
Menzies Institute for Medical ResearchPublisher
Elsevier Science IncPlace of publication
New York, NY, USARepository Status
- Restricted