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

42 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 - 01-01-1998

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Corneal Transplantation
Chromosome Mapping
Chromosomes, Human, Pair 1
Amyloid Plaques
Haplotypes
Visual Acuity
Chromosomes
Genes
Gelatinous drop-like corneal dystrophy

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Tsujikawa, Motokazu ; Kurahashi, Hiroki ; Tanaka, Toshihiro ; Okada, Masaki ; Yamamoto, Syuji ; Maeda, Naoyuki ; Watanabe, Hitoshi ; Inoue, Yoshitsugu ; Kiridoshi, Akira ; Matsumoto, Kouki ; Ohashi, Yuichi ; Kinoshita, Shigeru ; Shimomura, Yoshikazu ; Nakamura, Yusuke ; Tano, Yasuo. / Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. In: American Journal of Human Genetics. 1998 ; Vol. 63, No. 4. pp. 1073-1077.
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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.",
author = "Motokazu Tsujikawa and Hiroki Kurahashi and Toshihiro Tanaka and Masaki Okada and Syuji Yamamoto and Naoyuki Maeda and Hitoshi Watanabe and Yoshitsugu Inoue and Akira Kiridoshi and Kouki Matsumoto and Yuichi Ohashi and Shigeru Kinoshita and Yoshikazu Shimomura and Yusuke Nakamura and Yasuo Tano",
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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, vol. 63, no. 4, pp. 1073-1077. https://doi.org/10.1086/302071

Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. / Tsujikawa, Motokazu; Kurahashi, Hiroki; Tanaka, Toshihiro; Okada, Masaki; Yamamoto, Syuji; Maeda, Naoyuki; Watanabe, Hitoshi; Inoue, Yoshitsugu; Kiridoshi, Akira; Matsumoto, Kouki; Ohashi, Yuichi; Kinoshita, Shigeru; Shimomura, Yoshikazu; Nakamura, Yusuke; Tano, Yasuo.

In: American Journal of Human Genetics, Vol. 63, No. 4, 01.01.1998, p. 1073-1077.

Research output: Contribution to journalArticle

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T1 - Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p

AU - Tsujikawa, Motokazu

AU - Kurahashi, Hiroki

AU - Tanaka, Toshihiro

AU - Okada, Masaki

AU - Yamamoto, Syuji

AU - Maeda, Naoyuki

AU - Watanabe, Hitoshi

AU - Inoue, Yoshitsugu

AU - Kiridoshi, Akira

AU - Matsumoto, Kouki

AU - Ohashi, Yuichi

AU - Kinoshita, Shigeru

AU - Shimomura, Yoshikazu

AU - Nakamura, Yusuke

AU - Tano, Yasuo

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