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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 |
| UTAS Author: | Dickinson, JL (Professor Joanne Dickinson) |
| UTAS 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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