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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.

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.

journal_name

Am J Ophthalmol

journal_title

American journal of ophthalmology

authors

Baird PN,Dickinson J,Craig JE,Mackey DA

doi

10.1016/s0002-9394(00)00812-6

subject

Has Abstract

pub_date

2001-04-01 00:00:00

pages

510-1

issue

4

eissn

0002-9394

issn

1879-1891

pii

S0002939400008126

journal_volume

131

pub_type

杂志文章

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