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Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

Citation

Charlesworth, JC and Stankovich, J and Mackey, DA and Craig, JE and Haybittel, M and Westmore, RN and Sale, MM, Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family, Ophthalmologica, 220, (1) pp. 23-30. ISSN 0030-3755 (2006) [Refereed Article]

DOI: doi:10.1159/000089271

Abstract

Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci. Using penetrance-model-free methods, we screened the POAG loci GLC1A-F in an extended Australian pedigree, using 3-5 markers within each locus. p values of less than 0.05 were obtained empirically using SimWalk2 and exactly using Genehunter for 2 markers within the GLC1B region on chromosome 2. Fine mapping of this region produced p values of 0.01 or less at 5 markers flanked by D2S1897 and D2S2269. The 9 cM haplotype of interest overlaps the original GLC1B region. These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Charlesworth, JC (Dr Jac Charlesworth)
Author:Stankovich, J (Dr Jim Stankovich)
Author:Mackey, DA (Professor David Mackey)
Author:Craig, JE (Mr Jamie Craig)
Author:Sale, MM (Dr Michele Sale)
ID Code:41592
Year Published:2006
Web of Science® Times Cited:3
Deposited By:Medicine (Discipline)
Deposited On:2006-08-01
Last Modified:2010-06-08
Downloads:0

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