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

Paul N. Baird, Jo Dickinson, Jamie E. Craig, David A. Mackey

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)510-511
Number of pages2
JournalAmerican Journal of Ophthalmology
Volume131
Issue number4
DOIs
Publication statusPublished - 18 Apr 2001
Externally publishedYes

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