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

研究成果: Article査読

45 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)1073-1077
ページ数5
ジャーナルAmerican Journal of Human Genetics
63
4
DOI
出版ステータスPublished - 1998

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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