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Molecular genetic analysis of Cytochrorne P4501B1 and allied genes

Research Project

Project/Area Number 14571681
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

SONODA Shozo (2003)  Kagoshima University, University Hospital, Graduate School of Medical and Dental Sciences, Resarch Associate, 大学院・医歯学総合研究科, 助手 (20325806)

伊佐敷 靖 (2002)  鹿児島大学, 医学部, 助教授 (70168160)

Co-Investigator(Kenkyū-buntansha) 園田 祥三  鹿児島大学, 医学部附属病院, 助手 (20325806)
Project Period (FY) 2002 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥3,400,000 (Direct Cost: ¥3,400,000)
Fiscal Year 2003: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2002: ¥2,300,000 (Direct Cost: ¥2,300,000)
KeywordsCytochrome P450 1B1 gene / congenital glaucoma / genetic polymorphism / retinoschisis / Norrie disease / LHON / Phylogenetic analysis / 成人発症緑内障 / 疾患感受性 / 系統樹解析 / 分子進化学
Research Abstract

1)Cytochrome P4501B1(CYPIBi)is a causative gene of congenital glaucoma, and dispersion has been shown within the gene by diverse clinical manifestations.There are also polymorphic substitutions in the CYP1BI gene.Considering genetic linkage with the disease susceptibility, CYP lB I genetic polymorphism was examined among patients with adult-onset primary open angle glaucoma.Frequency of each genotype was as follows in the order of the POAG patients, the normal controls, when it is shown by the number of examples of the displacement homozygote/heterozygote/normal homozygote.They were 8/11/76, 3/18/93 for R48G ; 12/52/31, 20/53/47 for A119S ; 2/3/83, 1/11/125 for A330V, and 0/7/83, 0/6/82 for S331R.Although statistical approval was given about' the genotype frequency between the groups, there was no specific genotype which recommended significant difference.
2)Novel pathological gene mutations were found in two retinoschisis families(RS 1 gene)and a Norrie disease family(ND gene).
3)To investigate the anthropological background and the association of mitochondrial DNA(mtDNA) haplotype with the disease phenotype, nucleotide sequence in the hypervariable segment of the displacement loop(D-loop)region of mtDNA was determined in Japanese patients with Leber's hereditary optic neuropathy(LHON)harboring G11778A mutation.Genetic polymorphism of mtDNA was examined in 36 unrelated Japanese LHON patients who presented with bilateral optic nerve disease and had mtDNA G11778A mutation.From the data set of nucleotide alignments, the phylogeny of mtDNA sequence and phenotypic diversity within the examined population were evaluated.One-base polymorphism was present at 37 different sites.There was not any definite ancestral haplotype of the D-loop sequence in the examined LHON population.Thus, the mutational event of GI 1778A appears to be independent of the evolutionary course in the D-loop haplotype.

Report

(3 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • Research Products

    (17 results)

All Other

All Publications (17 results)

  • [Publications] Tuvdendorj D: "Two Japanese patients with mutations in the XLRS1 gene."Retina. 22. 354-357 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Hatsukawa Y: "Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family."Br J Opththalmol. 86. 1452-1453 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Isashiki Y: "Phylogenetic assessment of mtDNA D-loop haplotype in Japanese patients with Leber's hereditary optic neuropathy harboring mtDNA G1178A mutation."Opthalmic Research. 35. 224-231 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sonoda S: "Two patients with severe corneal disease in KID syndrome."Am J Ophthalmol. 137. 181-193 (2004)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 伊佐敷 靖: "眼筋疾患の遺伝子異常"眼科診療Q&A. 1079. 18-19 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Tuvdendorj D, Isashiki Y, Ohba N, Sonoda S, Izumo S.: "Two Japanese patients with mutations in the XLRS1 gene."Retina. 22. 354-357 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Hatsukawa Y, Nakao T, Yamagishi T, Okamoto N, Isashiki Y.: "Novel nonsense mutation(Tyr44stop)of the Norrie disease gene in a Japanese family."Br J Ophthalmol. 86. 1452-1453 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Isashiki Y, Sonoda S, Izumo S, Sakamoto T, Tachikui H, Inoue I.: "Phylogenetic assessment of mtDNA D-loop haplotype in Japanese patients with Leber's hereditary optic neuropathy harboring mtDNA G11778A mutation."Ophthalmic Research. 35. 224-231 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sonoda S, Uchino E, Sonoda KH, Yotsumoto S, Uchio E, Isashiki Y, Sakamoto T.: "Two patients with severe comeal disease in KID syndrome."Am J Ophthalmol. 137. 181-193 (2004)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Sonoda S: "Two patients with severe corneal disease in KID syndrome"American Journal of Ophthalmology. 137. 181-193 (2004)

    • Related Report
      2003 Annual Research Report
  • [Publications] Isashiki Y: "Phylogenetic assessment of mtDNA D-loop haplotype in Japanese patients with Leber's hereditary optic neuropathy harboring mtDNA G11778A mutation"Ophthalmic Research. 35. 224-231 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Hatsukawa Y: "Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family"British Journal of Ophthalmology. 86. 1452-1453 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] Tuvdendorj D: "Two Japanese patients with mutations in the XLRS1 gene"Retina. 22. 354-357 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] 伊佐敷 靖 (分担): "眼科学(丸尾敏夫、他編)"文光堂(東京). 1526 (2002)

    • Related Report
      2003 Annual Research Report
  • [Publications] Hatsukawa Y: "Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family"British Journal of Ophthalmology. 86. 1452-1453 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Tuvdendorj D: "Two Japanese patients with mutations in the XLRS1 gene"Retina. 22. 354-357 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 伊佐敷 靖(分担): "眼科学(丸尾 敏夫、他 編)"文光堂(東京). 1526 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2002-04-01   Modified: 2016-04-21  

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