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Research of Molecular Genetics for Ocular Diseases

Research Project

Project/Area Number 10671643
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionOsaka University

Principal Investigator

YAMAMOTO Syuji  Osaka University Graduate School of Medicine, Assistant Professor, 医学系研究科, 助手 (80294065)

Co-Investigator(Kenkyū-buntansha) TANO Yasuo  Osaka University Graduate School of Medicine, Professor, 医学系研究科, 教授 (80093433)
下村 嘉一  大阪大学, 医学部, 助教授 (20162737)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 1999: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1998: ¥2,300,000 (Direct Cost: ¥2,300,000)
KeywordsMolecular Genetics / Corneal Dystrophy / Kerato-epithelin / lattice Corneal Dystrophy / X-linked refinoschisis / XLRS1 gene / Candidate Gene Approach / Big-h3 / 原因遺伝子 / 原因遺伝子解析 / 網膜色素変性症 / 格子状角膜変性症III型 / リンケージ解析
Research Abstract

In total, 91 Japanese patients who had been clinically diagnosed with GCD, LCD, or RBCD were investigated to determine whether they had mutations in the keratoepithelin gene. We detected seven different missense murations : R555W, R124H, R124C, P501T, L527R, R555Q, and R124L. Of them, P501T was a novel missense mutation responsible for LCD type III (Am J Hum Genet, 1998). Furthermore, eight patients with severe form of corneal dystrophy were proved to have homozygous R124H or R555W kerato-epithelin mutation (Invest Ophthalmol Vis Sci, 1998 and Am J Ophthalmol, 1998). We could detect the mutation responsible for the disease in all 91 families (Cornea, 2000).
Ten patients with X-linked retinoschisis (XLRS) were analyzed. Point mutations in the XLRS1 gene were identified in all 10 patients. Of them, five mutations were newly discovered. Identification of mutations in the XLRS1 gene will facilitate early diagnosis, appropriate therapy, and genetic counseling regarding the prognosis of XLRS (Arch Ophthalmol, 2000).

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (33 results)

All Other

All Publications (33 results)

  • [Publications] Yamamoto S. et al: "The spectrum of Big-h3 gene mutations among patients with corneal dystrophy in Japan"Cornea. (in press). (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Akimune C, et al.: "Cornea guttata associated with the corneal dystrophy resulting from a Big-h3 R124H mutation"British Journal of Ophthalmology. 84(1). 67-71 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Inoue Y., Yamamoto S. et al: "X-linked retinoschisis with point mutations in the XLRS1 gege"Achieves of Ophthalmology. 118. 93-96 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Koizumi N. et al.: "Detection of herpes simplex virus DNA in atypical epithelial keratitis using polymerase chain reaction"British Journal of Ophthalmology. 83. 957-960 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Tsujikawa M. et al.: "Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy (GDLD) to chromosome lp"American Journal of Human Genetics. 63. 1073-1077 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M., Yamamoto S. et al: "Two distinct kerato-epithlin mutations in Reis-Bucklers cornal clystrophy"American Journal of Ophthalmology. 126. 535-542 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Tsujikawa M. et al.: "Novel polymorphisms in the Big-h3 gene"Journal of Human Genetics. 43. 214-215 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M., Yamamoto S. et al: "Severe corneal Dystrophy phenotype caused by homozygous R124H keratoepithelin mutations"Investigative Ophthalmology & Visual Science. 39(10). 1947-1953 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M., Yamamoto S. et al: "Granular corneal dystrophy with homozygous mutations in kerato-epithelin gene"American Journal of Ophthalmology. 126. 169-176 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yamamoto S. et al: "A kerato-epithelin (Big-h3) mutation in lattice corneal dystrophy type IIIA"American Journal of Human Genetics. 62. 719-722 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 山本修士: "眼科診療プラクティス48 加齢黄斑変性の診療"文光堂. 3 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 山本修士: "脳21"金芳堂. 4 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] 山本修士: "目でみる眼の遺伝学"金原出版. 5 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yamamoto S, Okada M, Tsujikawa M, et al: "The spectrum of β ig-h3 gene mutations among patients with corneal dystrophy in Japan."Cornea. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Akimune C, Watanabe H, Maeda N, Okada M, Yamamoto S, et al.: "Cornea guttata associated with the corneal dystrophy resulting from a β ig-h3 R124H mutation."Br J Ophthalmol. 84. 67-71 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Inoue Y, Yamamoto S, Okada M, et al.: "X-linked retinoschisis with point mutations in the XLRS1 gene."Arch Ophthalmol. 118. 93-96 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Koizumi N, Nishida K, Adachi W, Tei M, Honma Y, Dota A, Sotozono C, Yokoi N, Yamamoto S, et al: "Detection of herpes simplex virus DNA in atypical epithelial keratitis using polymerase chain reaction."Br J Ophthalmol. 83. 957-960 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Tsujikawa M, Kurahashi H, Tanaka T, Okada M, Yamamoto S, et al.: "Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy (GDLD) to chromosome 1p."Am J Hum Genet.. 63. 1073-1077 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M, Yamamoto S, Tsujikawa M, et al: "Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy."Am J Ophthalmol.. 126. 535-542 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Tsujikawa M, Shimomura Y, Okada M, Yamamoto S, et al: "Novel polymorphisms in the β ig-h3 gene."J Hum Genet. 43. 214-215 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y & Tano Y: "Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations."Invest Ophthalmol Vis Sci. 39. 1947-1953 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Okada M, Yamamoto S, et al: "Granular corneal dystrophy with homozygous mutations in kerato-epithelin gene."Am J Ophthalmol.. 126. 169-176 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yamamoto S, Okada M, Tsujikawa M, et al: "A Kerato-epithelin (β ig-h3) mutation in lattice corneal dystrophy typeIIIA."Am J Hum Genet. 62. 719-722 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Shuji Yamamoto et al.: "The spectrum of Big-h3 gene mutations in Japanese patients with CD"Cornea. (in press). (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Motokazu Tsujikawa et al.: "Identification of the gene responsible for gelatinous drop-like dystrophy"Nature Genetics. 21. 420-423 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Yumiko Inoue et al.: "X-linked retinoschisis with point mutations in the XLRS1 gene"Archives of Ophthalmology. 118. 93-96 (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Chika Akimune et al.: "Corneal guttata associated with the corneal dystrophy resulting from a Big-h3 R124H mutation"British Journal of Ophthamlology. 84. 67-71 (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Shuji Yamamoto: "A Kerato-Epithelin(Big-h3)Mutation in Latlice Corneal Dystrophy TypeIIIA." The American Journal of Human Genetics. 62・3. 719-722 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Masaki Okada: "Granular Corneal Dystrophy with Homozygous Mutations in the Kerato-epithelin gene." American Jounal of Ophthalmology. 126. 169-176 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Masaki Okada: "Severe Corneal Dystrophy Phenotype Caused by Homoeygous R124H Keratoepi the in Mutations." Investigative Ophthalmology & Visual Science. 39・9. 1947-1953 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Masaki Okada: "Two Distinct Kerato-epithelin Mutations in Reis-Bucklers Corneal Dystrophy." American Jounal of Ophthalmology. 126. 535-542 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Motokazu Tsujikawa: "Novel Polymorphisms in the Big-h3 gene" Journal of Human Genetics. 43. 214-215 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Motokazu Tsujikawa: "Homozygosity Mapping of a Geme Responsible for Gelatinous Drop-like Corneal Dystrophy." The American Journal of Human Genetics. 63・4. 1073-1077 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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