Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p

Am J Hum Genet. 1998 Oct;63(4):1073-7. doi: 10.1086/302071.

Abstract

Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disorder characterized clinically by grayish corneal deposits of amyloid and by severely impaired visual acuity. Most patients require corneal transplantation. To localize a gene responsible for GDLD, we performed linkage analysis of 10 consanguineous Japanese families with a total of 13 affected members. Homozygosity mapping provided a maximum LOD score of 9.80 at the D1S2741 marker locus on the short arm of chromosome 1. Haplotype analysis further defined the disease locus within a region of approximately 2.6 cM between D1S2890 and D1S2801.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Consanguinity
  • Corneal Dystrophies, Hereditary / genetics*
  • Female
  • Haplotypes
  • Homozygote
  • Humans
  • Japan
  • Lod Score
  • Male
  • Pedigree