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

P.N. Baird, A.J. Richardson, J.E. Craig, E. Rochtchina, David Mackey, P. Mitchell

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)

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. Geno, typing of the microsatellite markers My5, My3, DlS2815, and DIS1619 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. (c) 2005 by Elsevier Inc. All rights reserved.
Original languageEnglish
Pages (from-to)1125-1126
JournalAmerican Journal of Ophthalmology
Volume139
Issue number6
DOIs
Publication statusPublished - 2005

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