Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis

J. R. Samples, G. Kitsos, E. Economou-Petersen, P. Steinkamp, R. Sykes, K. Rust, C. Patzer, M. Grigoriadou, G. Aperis, K. Psilas, M. B. Petersen, Mary K. Wirtz

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

The GLC1C locus for primary open-angle glaucoma (POAG) is inherited as an autosomal dominant trait. This region on chromosome 3 is 11 cM long. DNA samples from members of a Greek and an American GLC1C family were obtained to determine whether additional typing of microsatellite markers in family members might narrow the region. GLC1C family members were evaluated clinically for POAG on the basis of open angles, intraocular pressures, cupping of discs, and visual fields. DNA samples from the Greek and Oregon GLC1C families were used to further refine the GLC1C region using microsatellite markers. A total of 22 affected members were identified in the two families. Common alleles for D3S3637 and D3S3612 were present in the disease haplotype from both families, suggesting that they may have a common founder. A newly diagnosed patient in the American family had a recombination in the distal portion of the GLC1C haplotype. This recombination narrows the GLC1C region from 11 to 4 cM.

Original languageEnglish (US)
Pages (from-to)40-44
Number of pages5
JournalClinical Genetics
Volume65
Issue number1
DOIs
StatePublished - Jan 1 2004

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Keywords

  • GLC1C
  • Glaucoma
  • Haplotype
  • POAG

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Samples, J. R., Kitsos, G., Economou-Petersen, E., Steinkamp, P., Sykes, R., Rust, K., Patzer, C., Grigoriadou, M., Aperis, G., Psilas, K., Petersen, M. B., & Wirtz, M. K. (2004). Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis. Clinical Genetics, 65(1), 40-44. https://doi.org/10.1111/j..2004.00182.x