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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

Citation

Baird, PN and Dickinson, JL and Craig, JE and Mackey, DA, The Taa1 Restriction Enzyme Provides a Simple Means to Identify the Q368STOP Mutation of the Myocilin Gene in Primary Open Angle Glaucoma, American Journal of Ophthalmology, 131, (4) pp. 510-511. ISSN 0002-9394 (2001) [Refereed Article]

DOI: doi:10.1016/S0002-9394(00)00812-6

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 Q368STOP mutation of the myocilin gene. Copyright © 2001 Elsevier Science Inc.

Item Details

Item Type:Refereed Article
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Genetics not elsewhere classified
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Dickinson, JL (Associate Professor Joanne Dickinson)
Author:Mackey, DA (Professor David Mackey)
ID Code:23436
Year Published:2001
Web of Science® Times Cited:5
Deposited By:Menzies Centre
Deposited On:2001-08-01
Last Modified:2002-06-25
Downloads:0

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