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

journal contribution
posted on 2023-05-16, 17:17 authored by Baird, PN, Richardson, AJ, Craig, JE, Rochtchina, E, David MackeyDavid Mackey, Mitchell, P
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.

History

Publication title

American Journal of Ophthalmology

Volume

139

Issue

6

Pagination

1125-1126

ISSN

0002-9394

Department/School

Tasmanian School of Medicine

Publisher

Elsevier Science Inc,

Place of publication

USA

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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