Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q

Am J Hum Genet. 1997 Feb;60(2):296-304.

Abstract

Glaucoma is the third-leading cause of blindness in the world, affecting >13.5 million people. Adult-onset primary open-angle glaucoma (POAG) is the most common form of glaucoma in the United States. We present a family in which adult-onset POAG is inherited as an autosomal dominant trait. Twelve affected family members were identified from 44 at-risk individuals. The disease-causing gene was mapped to chromosome 3q21-24, with analysis of recombinant haplotypes suggesting a total inclusion region of 11.1 cM between markers D3S3637 and D3S1744. This is the first report of mapping of an adult-onset POAG gene to chromosome 3q, gene symbol GLC1C.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 3*
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Pedigree