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Candidate gene approach of retinitis pigmentosa

Research Project

Project/Area Number 05807166
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field Ophthalmology
Research InstitutionJuntendo University School of Medicine

Principal Investigator

HAYAKAWA Mutsuko  Juntendo University School of Medicine, Assistant Prof., 医学部, 講師 (60095825)

Co-Investigator(Kenkyū-buntansha) KAWANO Hiroyuki  Juntendo University School of Medicine, Assistant, 医学部, 助手 (70234094)
SAKUMA Hitoshi  Juntendo University School of Medicine, Assistant, 医学部, 助手 (60235207)
FUJIKI Keiko  Juntendo University School of Medicine, Assistant Prof., 医学部, 講師
HOTTA Yoshihiro  Juntendo University School of Medicine, Assistant Prof., 医学部, 講師 (90173608)
Project Period (FY) 1993 – 1995
Project Status Completed (Fiscal Year 1995)
Budget Amount *help
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1995: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1994: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1993: ¥900,000 (Direct Cost: ¥900,000)
Keywordsretinitis pigmentosa / cone-rod dystrophy / rod-cone dystrophy / macular degeneration / Best's disease / rhodopsin gene / peripherin / RDS gene / beta-cGMP-PDE gene / 杆体錐体ジストロフィ / 黄班変性 / ロドプシン / RDS / β-cGMP-PDE / リカバリン / beta-cGMP-PDE
Research Abstract

Since Dryja et al. (1990) found a point mutation of rhodopsin gene in autosomal dominant retinitis pigmentosa (ADRP), almost 60 point mutations or deletions of the rhodopsin gene have been found in 25-30% of ADRP patients in U.S.A.and 16% in U.K.. And also the mutations of peripherin/RDS gene have been found not only in ADRP patients but also in patients with cone-rod dystrophy, rod-cone dystrophy, pattern dystrophy, macular degeneration and so on. Purpose of this research was to be screening the mutations of candidate genes ; rhodopsin (for 43 patients with ADRP), peripherin/RDS (43 ADRP and 26 ARRP, and 36 related disease of retinal degeneration), beta-cGMP-phosphodiesterase (43 ADRP and 26 ARRP for 6 exons) and phosducin and ROM-1 (16 ADRP) genes in Japanese patients by single strand conformation polymorphism (SSCP) method, direct sequencing and/or restriction enzymes. During these three years almost 300 leucocyte samples have been obtained and kept for further analyzes. We found ad … More ditional mutation of codon 15 in ADRP patient (we have already found codon 17 and 347 mutations of rhodopsin gene among these ADRP patients, therefore rate of mutations of rhodopsin gene in ADRP was 7% (3/43)). Funduscopic findings were the same sectorial type as that of the patients with the same codon 15 mutation found in an Australian pedigree. We obtained also several kind of DNA polymorphisms. Although point mutations of codon 174 in rhodopsin gene, and codon 304 and 338 in peripherin/RDS gene result in an amino acid substitution. However, these mutations were not associated with the disease. Latter two mutations were detected in normal controls with high frequencies. Although quality of SSCP and selection of the samples should be taken into consideration, and then all patients have not been screened completely for all exsons of all genes analyzed here, there may be not so many cases caused by the mutation of the rhodopsin, peripherin/RDS and other genes examined in the Japanese patients with retinal degeneration. Less

Report

(4 results)
  • 1995 Annual Research Report   Final Research Report Summary
  • 1994 Annual Research Report
  • 1993 Annual Research Report
  • Research Products

    (53 results)

All Other

All Publications (53 results)

  • [Publications] Hayakawa M.,et al.: "Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient." Am J Ophthalmol. 115. 168-173 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 久保 奈佳子,他: "原発性定型網膜色素変性の全国調査成績" 臨眼. 47. 665-669 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M.,et al.: "A multicenter study of typical retinitis pigmentosa in Japan." Jpn J Ophthalmol. 37. 156-164 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "眼科における遺伝相談" 日本の眼科. 64. 22 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "類縁疾患" 眼科. 36. 237-246 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 佐渡 一成,他: "片眼性網膜色素変性症と思われる9例の検討" 眼臨. 88. 886-871 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 佐渡 一成,他: "筋緊張性ジストロフィの眼徴候" 新しい眼科. 11. 1785-1791 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 吉井 大,他: "ロドプシン遺伝子コドン15の変異を呈した区画型網膜色素変性の1例" 眼紀. 46. 560 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sakuma H.,et al.: "A heterozygou's putative null mutation in ROMI without a mutation in Peripherin/RDS in a family with retinitis pigmentosa." Genomics. 27. 384-386 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Fujiki K.,et al.: "Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals." Jpn J Human Genet. 40. 203-206 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 河野 博之,他: "網膜色素変性患者におけるロドプシン遺伝子の検討-制限酵素による変異部位の検索とDNA多型の頻度" 日眼会誌. 99. 1151-1157 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 北川 均,他: "黄斑部萎縮を認めた杆体一色型色覚の症例" 眼臨. 89. 1536-1539 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Fujiki K.,et al.: "Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa." Jpn J Human Genet. 40. 270-277 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Ara-Iwata F.,et al.: "Analysis of phosducin as a candidate gene for retinopathies.Ophthal." Genetics. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M.,et al.: "Digital indocyanine green angiography in crystalline retinopathy." Proceeding 2nd.Inter.Symp.on Indocyanine green angiography. 92-94 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Isashiki Y.,et al.: "A new mutation in a Japanese family." British J Ophthalmol. 79. 703-708 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 河北 万祐美: "4歳男児と母親にTapetal-like reflexを認めたX染色体性網膜色素変性の1家系" 眼科臨床医報. 89. 213-216 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "屈折異常の診療.眼科診療プラクティス" 文光堂, 2 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 堀田 喜裕: "網膜変性症の遺伝子.眼科診療追録14号" 六法出版, 4 (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 藤木 慶子: "黄斑ジストロフィ.臨床DNA診断法" 金原出版, 4 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "網膜色素変性のquality of life.眼科プラクティス 眼科診療に役立つ遺伝学II" 文京堂, 4 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "網膜色素変性1)臨床.眼科プラクティス・眼科診療に役立つ遺伝学I" 文京堂, 6 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "遺伝相談の実際1)網膜色素変性.眼科プラクティス 眼科診療に役立つ遺伝学II" 文京堂, 6 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 早川 むつ子: "遺伝各論.眼科学体系10A 眼の発生と遺伝5" 中山書店, 15 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 堀田 喜裕: "脈絡膜ジストロフィ.眼科学体系10A 眼の発生と遺伝5" 中山書店, 5 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 堀田 喜裕: "近視の素因.近視を伴う遺伝病について教えて下さい.眼科診療17号" 六法出版, 3 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 堀田 喜裕: "遺伝子治療.眼科診療プラクティス.やさしい眼の細胞・分子生物学" 文京堂, 6 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient." Am J Ophthalmol. 115. 168-173 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kubo N, et al.: "Nationwide survey of typical retinitis pigmentosa" Jpn J Ophthalmol. 47. 665-669 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "A multicenter study of typical retinitis pigmentosa in Japan." Jpn J Ophthalmol. 37. 156-164 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Chorioretinal atrophy allied with retinitis pigmentosa." Ophthalmology. 36. 237-246 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sado K, et al.: "Nine cases of presumed unilateral retinal pigmentary degeneration" Jpn Rev Clin Ophthalmol. 88. 866-871 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sado K, et al.: "Ocular Symptoms in Myotonic Dystrophy" Atarashii Ganka (J.Eye). 11. 1785-1791 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Yoshii M, et al.: "A case of sectorial retinitis pigmentosa associated with Rhodopsin gene codon 15 mutation" Folia OPhthalmol. 46. 560 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Sakuma H, et al.: "A heterozygous putative null mutation in ROM1 without a mutation in Peripherin/RDS in a family with retinitis pigmentosa." Genomics. 27. 384-386 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Fujiki K, et al.: "Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals." J.Jpn J Human Genet. 40. 203-206 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawano H, et al.: "A study on the Rhodopsin gene in Japanese retinitis pigmentosa-Screening of mutation by restriction endonucreases and frequencies of DNA polymorphism-" J Jpn Ophthalmol Soc. 99. 1151-1157 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kitagawa H, et al.: "Macular atrophy in a case of rod monochromatism" Jpn Rev Clin Ophthalmol. 89. 1536-1539 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Fujiki K, et al.: "Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa." Jpn J Human Genet. 40. 271-277 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Ara-Iwata F, et al.: "Analysis of phosducin as a candidate gene for retinopathies." Ophthal. Genet.(in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Digital indocyanine green angiography in crystalline retinopathy." A.Proceeding 2nd. Inter. Symp. on Indocyanine green angiography 92-94. (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Isashiki Y, et al.: "Mutations in the Norrie disease gene : a new mutation in a Japanese family." British J Ophthalmol. 79. 703-708 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] Kawakita M, et al.: "Tapetum-like retinal reflex in a four-year-old boy and his mother in a pedigree of X-likned retinitis pigmentosa." Jpn Rev Clin Ophthalmol. 89. 213-216 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1995 Final Research Report Summary
  • [Publications] 吉井大、他: "ロドプシン遺伝子コドン15の変異を呈した区画型網膜色素変性の1例" 眼紀. 46. 560 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Sakuma H, et al.: "A heterozygous putative null mutation in ROM1 without a mutation in Peripherin/RDS in a family with retinitis pigmentosa." Genomics. 27. 384-386 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Fujiki K. et al.: "Frequencies of polymorphisms in the rhodopsin gene of Japanese retinitis pigmentosa and normal individuals. 40 :203-206, 1995" Jpn J Human Genet. 40. 203-206 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 河野博之、他: "網膜色素変性患者におけるロドプシン遺伝子の検討-制限酵素による変異部位の検索とDNA多型の頻度" 日眼会誌. 99. 1151 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 北川均、他: "黄班部萎縮を認めた杆体-色型色覚の症例" 眼臨. 89. 1536-1539 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Fujiki K. et al: "Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa." Jpn J Human Genet. 40. 271-277 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 藤木慶子: "黄班ジストロフィ.臨床DNA診断法" 金原出版, 4 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 早川むつ子: "網膜色素変性のquality of life. 眼科プラクティス・眼科診療に役立つ遺伝学II" 文京堂, 4 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] K.Fujiki,H Kawano,Y Hotta,M Takeda,F Ara,M Hayakawa,A Kanai: "Frequency of polymorphisms in the rhodopsin gene in retinitis pigmentosa patients and mormal controls in Japan." Jpn.J.Hum.Genet.39. 154- (1994)

    • Related Report
      1994 Annual Research Report
  • [Publications] 吉井 大、村上 晶、沖坂重邦、簗島謙次、藤木慶子、堀田喜裕: "ロドプシン遺伝子コドン15の変異を呈した区画型網膜色素変性の1例" 眼紀. 46(印刷中). (1995)

    • Related Report
      1994 Annual Research Report

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Published: 1993-04-01   Modified: 2016-04-21  

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