Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin
- Author(s)
- Baird, PN; Craig, JE; Richardson, AJ; Ring, MA; Sim, P; Stanwix, S; Foote, SJ; Mackey, DA;
- Details
- Publication Year 2003-02,Volume 112,Issue #2,Page 110-116
- Journal Title
- HUMAN GENETICS
- Publication Type
- Journal Article
- 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.
- Publisher
- SPRINGER-VERLAG
- Keywords
- NORMAL-TENSION GLAUCOMA; GLN368STOP MUTATION; JAPANESE PATIENTS; LINKAGE ANALYSIS; TIGR GENE; PREVALENCE; AGE
- Publisher's Version
- https://doi.org/10.1007/s00439-002-0865-5
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2003-02-01 12:00:00