Affordable Access

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

Authors
  • Tsujikawa, M
  • Kurahashi, H
  • Tanaka, T
  • Okada, M
  • Yamamoto, S
  • Maeda, N
  • Watanabe, H
  • Inoue, Y
  • Kiridoshi, A
  • Matsumoto, K
  • Ohashi, Y
  • Kinoshita, S
  • Shimomura, Y
  • Nakamura, Y
  • Tano, Y
Type
Published Article
Journal
American journal of human genetics
Publication Date
Oct 01, 1998
Volume
63
Issue
4
Pages
1073–1077
Identifiers
PMID: 9758629
Source
Medline
License
Unknown

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.

Report this publication

Statistics

Seen <100 times