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

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    Author
    Baird, PN; Richardson, AJ; Craig, JE; Rochtchina, E; Mackey, DA; Mitchell, P
    Date
    2005-06-01
    Source Title
    AMERICAN JOURNAL OF OPHTHALMOLOGY
    Publisher
    ELSEVIER SCIENCE INC
    University of Melbourne Author/s
    Baird, Paul; Craig, Jamie; Mackey, David
    Affiliation
    Medicine, Dentistry and Health Sciences: Centre for Eye Research Australia
    School of Medicine: Ophthalmology
    Metadata
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    Document Type
    Journal Article
    Citations
    Baird, P. N., Richardson, A. J., Craig, J. E., Rochtchina, E., Mackey, D. A. & Mitchell, P. (2005). The Q368STOP myocilin mutation in a population-based cohort: The Blue Mountains Eye Study. AMERICAN JOURNAL OF OPHTHALMOLOGY, 139 (6), pp.1125-1126. https://doi.org/10.1016/j.ajo.2004.11.061.
    Access Status
    This item is currently not available from this repository
    URI
    http://hdl.handle.net/11343/33414
    DOI
    10.1016/j.ajo.2004.11.061
    Description

    Copyright confirmation in progress. Any queries to UMER- enquiries@unimelb.edu.au

    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.
    Keywords
    CERA; ophthalmology; Centre for Eye Research Australia; eye research; vision; visual health

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