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

journal contribution
posted on 2023-05-16, 20:26 authored by Baird, PN, Jamie CraigJamie Craig, Richardson, AJ, Ring, MA, Sim, P, Stanwix, SP, Simon James FooteSimon James Foote, David MackeyDavid Mackey
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.

History

Publication title

Human genetics

Volume

112

Pagination

110-116

ISSN

0340-6717

Department/School

Menzies Institute for Medical Research

Publisher

Springer-Verlag

Place of publication

175 Fifth Ave, New York, USA, Ny, 10010

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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