Genetic refinement of the chromosome 5q lattice corneal dystrophy type I locus to within a 2 cM interval

J Med Genet. 1995 Mar;32(3):224-6. doi: 10.1136/jmg.32.3.224.

Abstract

Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 5 / genetics*
  • Corneal Dystrophies, Hereditary / genetics*
  • Family Health
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Likelihood Functions
  • Male
  • Mutation
  • Pedigree
  • Phenotype
  • Population

Substances

  • Genetic Markers