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Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

Citation

Baird, PN and Craig, JE and Richardson, AJ and Ring, MA and Sim, P and Stanwix, SP and Foote, SJ and Mackey, DA, Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin, Human genetics, 112, (2) pp. 110-116. ISSN 0340-6717 (2003) [Refereed Article]

DOI: doi:10.1007/s00439-002-0865-5

Abstract

Primary open-angle glaucoma (POAG) is a leading cause of blindness in the world. A number of mutations in the myocilin gene have been identified that predispose to glaucoma. The most frequent of these is the Glutamine368STOP (Q368STOP) mutation. It has been postulated that individuals with the Q368STOP mutation are derived from a common founder. To clarify this situation, we studied 15 unrelated POAG families who carried the Q368STOP mutation, from south eastern Australia. In one large family, nine affected and ten unaffected individuals were identified with the Q368STOP mutation. Closely linked polymorphic microsatellite markers were used to establish a disease haplotype in this family. Additional genotyping of markers in another 14 unrelated Q368STOP families revealed the presence of the same disease haplotype. These findings indicate that the Q368STOP mutation in all 15 families shared a common origin prior to the European settlement of Australia in the early 1800s. © Springer-Verlag 2003.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Medical Genetics (excl. Cancer Genetics)
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Skeletal System and Disorders (incl. Arthritis)
Author:Craig, JE (Mr Jamie Craig)
Author:Stanwix, SP (Mrs Susan Stanwix)
Author:Foote, SJ (Professor Simon Foote)
Author:Mackey, DA (Professor David Mackey)
ID Code:48749
Year Published:2003
Web of Science® Times Cited:26
Deposited By:Menzies Institute for Medical Research
Deposited On:2007-08-01
Last Modified:2011-10-07
Downloads:0

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