The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma

Author(s): Baird, PN; Dickinson, J; Craig, JE; Mackey, DA;
Details: Publication Year 2001-04,Volume 131,Issue #4,Page 510-511
Journal Title: AMERICAN JOURNAL OF OPHTHALMOLOGY
Publication Type: Journal Article
Abstract: PURPOSE: 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 R368STOP mutation of the myocilin gene. (Am J Ophthalmol 2001;131:510-511. (C) 2001 by Elsevier Science Inc. All rights reserved).
Publisher: ELSEVIER SCIENCE INC
Publisher's Version: https://doi.org/10.1016/S0002-9394(00)00812-6
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2001-04-01 12:00:00