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

Motokazu Tsujikawa, Hiroki Kurahashi, Toshihiro Tanaka, Masaki Okada, Syuji Yamamoto, Naoyuki Maeda, Hitoshi Watanabe, Yoshitsugu Inoue, Akira Kiridoshi, Kouki Matsumoto, Yuichi Ohashi, Shigeru Kinoshita, Yoshikazu Shimomura, Yusuke Nakamura, Yasuo Tano

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

Gelatinous droplike 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 ~2.6 cM between D1S2890 and D1S2801.

Original languageEnglish
Pages (from-to)1073-1077
Number of pages5
JournalAmerican Journal of Human Genetics
Volume63
Issue number4
DOIs
Publication statusPublished - 1998

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p'. Together they form a unique fingerprint.

  • Cite this

    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. (1998). Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. American Journal of Human Genetics, 63(4), 1073-1077. https://doi.org/10.1086/302071