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The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study

Citation

Baird, PN and Richardson, AJ and Craig, JE and Rochtchina, E and Mackey, DA and Mitchell, P, The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study, American Journal of Ophthalmology , 139, (6) pp. 1125-1126. ISSN 0002-9394 (2005) [Refereed Article]

DOI: doi:10.1016/j.ajo.2004.11.061

Abstract

PURPOSE: To investigate the prevalence of the Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study (BMES). DESIGN: Population-based study. METHODS: DNA was extracted from 2,142 individuals collected through the BMES, including 31 individuals with glaucoma. All individuals were screened for the presence of the Q368STOP mutation of myocilin. Genotyping of the microsatellite markers My5, My3, D1S2815, and D1S1619 was also undertaken. RESULTS: None of the 31 open-angle glaucoma-positive individuals presented with the Q368STOP mutation. However, two individuals (aged 56 and 72) with no clinical signs of OAG, were identified with this mutation. Allele sharing at the four microsatellite markers defining the Q368STOP disease haplotype for OAG was found in these two individuals. CONCLUSIONS: The Q368STOP myocilin mutation occurs at a low prevalence (0.09%) in a general, older population. © 2005 by Elsevier Inc. All rights reserved.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:37070
Year Published:2005
Web of Science® Times Cited:7
Deposited By:Medicine (Discipline)
Deposited On:2005-08-01
Last Modified:2006-06-21
Downloads:0

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