Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq

Am J Hum Genet. 1994 Jan;54(1):62-70.


A large Caucasian family is presented, in which a juvenile-onset form of open-angle glaucoma is transmitted in an autosomal dominant fashion. Sixteen affected family members were identified from 31 at-risk individuals descended from the affected founder. Affected patients developed high intraocular pressures (sometimes > 40 mm Hg) within the first 2 decades of life. Linkage analysis between the disease phenotype and 12 microsatellite repeat markers located on chromosome 1q gave a maximum lod score of 8.38 at a recombination fraction of zero for marker D1S210. Analysis of recombinant haplotypes suggests a total inclusion region of about 14 cM between markers D1S194 and D1S218 at 1q21-q31. This represents the second juvenile-glaucoma family, in which the disease has been mapped to the long arm of chromosome 1.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Base Sequence
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • DNA Primers
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Glaucoma, Open-Angle / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phenotype


  • DNA Primers

Associated data

  • GENBANK/X52324
  • GENBANK/X52329