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CONSTRUCTION OF THE PHYSICAL MAP AT DARIER DISEASE GENE REGION ON CHROMOSOME 12Q AND AN ATTEMPT TO DETECT THE GENOMIC DELETION IN THIS REGION ON THE DNA OF PATIENTS.

Research Project

Project/Area Number 08670983
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionJUNTENDO UNIVERSITY,SCHOOL OF MEDICINE

Principal Investigator

IKEDA Shigaku  DEPARTMENT OF DERMATOLOGY,JUNTENDO UNIVERSITY,SCHOOL OF MEDICINE ASSISTANT PROFESSOR, 医学部, 講師 (40193198)

Project Period (FY) 1996 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 1997: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1996: ¥1,200,000 (Direct Cost: ¥1,200,000)
KeywordsDARIER DISEASE / POSITIONAL CLONING / GENE / PHYSICAL MAP
Research Abstract

In 1993, the gene for Darier's disease (DAR) was mapped to ch12q23-24.1 by genetic linkage analysis of the kindreds of European and Middie-eastern ancestory. Since then, tremendous effort has been made to clone the gene by several researchers. As yet, however, the gene has not been cloned.Accordingly, in 1996-7, we provided basic data thought to be essential for the cloning of DAR.The summary of our data is as follows ; (1) We have tested Japanese family with this disease, and found that locus heterogeneity might be also uncommon in Japanese kindred. (2) By testing several newly isolated polymorhic DNA markers, DAR sublocalized to two megabase interval between D12S1328 and D12S1616.(3) A genomic contig encompassing the DAR region has been established. The most centromeic and telomeric portions of the contig were mainly established by us, while the central portion was established by our collabolators (Pulst S.et al : Nature Genetics, 14 : 269,1996).(3) The exon-intron junctions of serine/threonine protein phosphatase gene, while appeared to locallze to the DAR region, were sequenced, and SSCP analysis was performed in some patients. As yet, abnormalities have not been found. We are now testing for muation detection in additional several patients. (4) In order to isolate "candidate" genes, we have performed the exon-trapping method on some genomic clones on the contig. A few expressed sequnces were detected in the preliminary procedure, and tests are now underway furthetr to delimit the range of possible 'candidates'.(5) Finally, genomic DNA samples from 26 unrelated patients have been tested to identity genomic deletion using pulse-field electrophoresis + Southern hybridization with several probes obtained from the contig. As yet, abnormalities have not been found. We are in the process of isolating additional probes, which will be used to detect genomic deletion in the DNA of some patiants.

Report

(2 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] Waken P, Ikeda S, et al: "Localization of the Darier Disease Gene to a 2cM Pertion of 12q23-24.1" J Invest Dermatol. 23. 365-367 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 池田 志斈: "Linkage analysis:本法を用いた近年の遺伝性皮膚疾患遺伝子同定の進展、およびその1例としてのダリエ病遺伝子同定の進行状況について" 日皮会誌. 107. 1615-1617 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 池田 志斈 ほか: "ダリエ氏病原菌遺伝子としてのEBウイルスLMP1様遺伝子の解析" 順天堂医学. 43. 486- (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 池田 志斈 ほか: "邦人ヘイリーヘイリー病及びダリエ病家系を用いた連鎖解析の試み" 日皮会誌. (印刷中). (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ikeda S, et al: "Narrowing of the Darier Disease Gene Interval on Chromosome 12q" L Invest Dermatol. (in press). (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 池田 志斈: "第11回角化症研究会記録集" 日本ロッシュ(株)/(株)スタンダード・マッキンタイヤ, 54-57 (4) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Wakem p, Ikeda S,et al: "Localization of the Darier Disease Gene to a 2-cM Portion of 12q23-24.1" J Invest Dermatol. 23. 365-367 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ikeda S.: "Recent advances in the identification of the responsible genes in hereditary skin diseases by linkage analysis, and its application to Darier Disease." Jpn J Dermatol. 107. 1615-1617 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ikeda S,et al: "Linkage analysis of Japanese Hailey-Hailey disease (HHD) and Darier disease (DD) kindreds with DNA markers at ch3q and ch12q" Jpn J Dermatol. (in press). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Ikeda S,et al: "Narrowing of the Darier Disease Interval on Chromosome 12q." J Invest Dermatol. (in press). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 池田志斈ほか: "邦人ヘイリーヘイリー病及びダリエ病家系を用いた連鎖解析の試み" 日皮会誌. (印刷中). (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] Ikeda S,et al: "Narrowing of the Darier Disease Gene Interval on Chromosome 12q" J Invest Dermatol. (in press). (1998)

    • Related Report
      1997 Annual Research Report

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Published: 1996-04-01   Modified: 2016-04-21  

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