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

doi:10.1086/302071

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

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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.

Original language	English
Pages (from-to)	1073-1077
Number of pages	5
Journal	American Journal of Human Genetics
Volume	63
Issue number	4
DOIs	https://doi.org/10.1086/302071
Publication status	Published - 1998
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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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, 63(4), 1073-1077. https://doi.org/10.1086/302071

@article{155f3266b36e41babc957fde9fadef10,

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

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",

note = "Funding Information: We are indebted to all the patients and their relatives who contributed to this study. We also thank Drs. Shigeki Okamoto Ichiro Shimamoto, Okihiro Nishi, and Reizo Manabe for helpful discussions. This work was supported by the Research on Human Genome and Gene Therapy grant from the Ministry of Health and Welfare of Japan. ",

year = "1998",

doi = "10.1086/302071",

language = "English",

volume = "63",

pages = "1073--1077",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "4",

}

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

TY - JOUR

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

N1 - Funding Information: We are indebted to all the patients and their relatives who contributed to this study. We also thank Drs. Shigeki Okamoto Ichiro Shimamoto, Okihiro Nishi, and Reizo Manabe for helpful discussions. This work was supported by the Research on Human Genome and Gene Therapy grant from the Ministry of Health and Welfare of Japan.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

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JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -

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

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