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Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family


Charlesworth, JC; Stankovich, JM; Mackey, DA; Craig, JE; Haybittel, M; Westmore, RN; Sale, MM
2006
OPHTHALMOLOGICA
Journal Article
220
1
23-30
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. Copyright (c) 2006 S. Karger AG, Basel.
KARGER
GENOME-WIDE SCAN; LINKAGE ANALYSIS; CHROMOSOME 3Q; GENE; MUTATIONS; OPTINEURIN; PREVALENCE; PEDIGREE; MAPS; EYE
10.1159/000089271
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Creation Date 2006-01-01 12:00:00