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

被引：8

作者：

Baird, PN

Richardson, AJ

Craig, JE

Rochtchina, E

Mackey, DA

Mitchell, P

机构：

[1] Univ Melbourne, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia

[2] Flinders Med Ctr, Dept Ophthalmol, Adelaide, SA, Australia

[3] Univ Sydney, Dept Ophthalmol, Westmead Hosp, Ctr Vis Res, Westmead, NSW 2145, Australia

[4] Univ Tasmania, Menzies Ctr Populat Hlth Res, Hobart, Tas, Australia

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 2005年 / 139卷 / 06期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.ajo.2004.11.061

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：1125 / 1126

页数：2

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