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Molecular analysis of PAX2 gene in congenital renal and heart diseases

Research Project

Project/Area Number 08670888
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionOkayama University

Principal Investigator

KAMADA Masahiro (1997)  Okayama University, Okayama University Hospital attached to Medical School, Assistant Professor, 医学部・附属病院, 助手 (30233927)

楢原 幸二 (1996)  岡山大学, 医学部, 助教授 (80144765)

Co-Investigator(Kenkyū-buntansha) TERAOKA Michio  Okayama University, Okayama University Hospital attached to Medical School, Seni, 医学部・附属病院, 医員
YOKOYAMA Yuji  Okayama University, Okayama University Hospital attached to Medical School, Assi, 医学部・附属病院, 助手 (00240226)
寺岡 通雄  岡山大学, 医学部・附属病院, 医員
小林 めぐみ  岡山大学, 医学部・附属病院, 医員
鎌田 政博  岡山大学, 医学部・附属病院, 助手 (30233927)
Project Period (FY) 1996 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1997: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1996: ¥1,200,000 (Direct Cost: ¥1,200,000)
KeywordsPAX2 / ONCR / FISH / 先天性腎奇形 / 先天性心奇形 / 染色体相互転座 / PAX2遺伝子 / 視神経コロボ-マ / 慢性腎炎
Research Abstract

We describe a 5 year old boy with a de novo t(10 ; 13) translocation and optic nerve coloboma-renal disease (ONCR), On the basis of GTG banding analysis of prometaphase chromosomes, the patient's karyotype was interpreted as either 46, XY, t(10 ; 13)(q24.3 ; q12.3) or t(10 ; 13)(q25.2 ; q14.1). Fluorescence in situ hybridisation (FISH) studies using a YAC clone containing the PAX2 gene and YAC clones adjoining FRA10B at 10q25.2 showed that the 10q breakpoint had occurred just within the PAX2 gene and was proximal to FRA10B.These FISH results suggest that the translocation causes a disruption of the PAX2 gene and leads to ONCR, in agreement with the recent reports of PAX2 mutations in two unrelated families with 0NCR.Furthermore, we refined the regional mapping of the human PAX2 gene to the junction of bands 10q24.3 and 10q25.1.

Report

(3 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • 1996 Annual Research Report
  • Research Products

    (6 results)

All Other

All Publications (6 results)

  • [Publications] Koji Narahara: "Localisation of a 10q breakpoint with in the PAX2 gene in a patient with a te nao t(10,13)translocation and optic nerve coloboma-real diseax" Journal of Medical Genetics. 34・3. 213-216 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Michio Teraoka: "45,X/46,X,idic(Yq) Mosaicism:Clinical,Cytogenetic and Molecular Stndies in Four Indindnals" American Journal of Medical Genetics. in press.

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Koji Narahara, Elizabeth Baker, Shigeru Ito, Yuji Yokoyama, et al.: "Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t (10 : 13) translocation and optic nerve coloboma-renal disease." Journal of Medical Genetics. 34 (3). 213-216 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Michio Teraoka, Koji Narahara, Yuji Yokoyama, et al.: "45, X/46, X,idic (Yq) Mosaicism : Clinical, Cytogenetic and Molecular Studies in Four Individuals." American Journal of Medical Genetics. (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] Koji Narahara: "Localisation of a 10q breakpoint within the PAX2 gene in a patient with a Je novo c(10;13) translocation and optic newe colobama-renal disease" Journal of Medical Genetics. 34・3. 213-216 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 楢原幸二・E.Baker 他: "視神経コロボ-マ・腎疾患とt(10;13)転座症例の切断点はPAX2内に存在する" 日本人類遺伝学会誌. (印刷中). (1997)

    • Related Report
      1996 Annual Research Report

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

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