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GLC1G: Mapping a new POAG locus on chormosome 5

Ophthalmology – Glaucoma Svc, Casey Eye Inst–Oregon Hlth Sci, Portland, OR

Commercial Relationships: J.R. Samples, None; R.L. Sykes, None; J. Man, None; K. Rust, None; P.L. Kramer, None; M.K. Wirtz, None.

Grant Identification: none

Abstract

Purpose: Glaucoma is the second leading cause of blindness worldwide with Primary Open Angle Glaucoma (POAG) being the most common form. Six loci and two genes have been mapped for POAG and are designated GLC1A, GLC1B, GLC1C, GLC1D, GLC1E and GLC1F which are located on chromosomes 1,2,3,8,10 and 7 respectively. Myocillin mutations are associated with GLC1A and optineurin mutations are associated with GLC1E. Our lab has been refining the map of chromosome 5 between 104.4 Mb to 111.2 Mb (between microsatellite markers D5S1721 and D5S2051) in a large Oregon family with the goal of identifying a disease haplotype that would be the seventh locus for POAG.

Methods: We began with a genome wide search in this family using microsatellite marker genotyping. This narrowed the search to chromsome 5 and the current fine–mapping involves combining genotyping data from seven microsatellite markers and sequencing data from 24 single nucleotide polymorphisms (SNPs) located between 104.4 Mb and 111.2 Mb. We use the UCSC Genome Bioinformatics database, assembly July 2003, to determine the chromosomal positions of microsatellite markers and SNPs.

Results: We have obtained 92 blood samples from this family. Fourteen of the samples are from affected members. Fine–mapping with SNP's has narrowed the disease haplotype to 3.8 Mb between D5S2084 and D5S492.

Conclusions: GLC1G, the seventh POAG locus, has been mapped to a 3.8 Mb region on chromosome 5. Mutational analysis of candidate genes is now in progress.

Keywords: genetics • intraocular pressure

© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. For permission to reproduce any part of this abstract, contact the ARVO Office at arvo{at}arvo.org.