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2001 Fiscal Year Final Research Report Summary

Extended linkage disequilibrium mapping based on a founder effect attributable to historical and genetic isolation

Research Project

Project/Area Number 12557034
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section展開研究
Research Field Hygiene
Research InstitutionKYOTO UNIVERSITY

Principal Investigator

KOIZUMI Akio  Kyoto. Univ., Medicine, Professor, 医学研究科, 教授 (50124574)

Co-Investigator(Kenkyū-buntansha) YOSHINAGA Takeo  Kyoto. Univ., Medicine, Associate Prof., 医学研究科, 助教授 (30025663)
Project Period (FY) 2000 – 2001
Keywordsepidemiological genetic / diseases genetic / nonrandom mating / genetic drifts / bottle neck / recessive / isolation / proteomics
Research Abstract

In various races, genetic backgrounds have great impacts on genetic epidemiological profiles of genetic diseases. These backgrounds include social isolation, geographical isolation, nonrandom mating, bottle neck phenomenon and genetic drifts.
Although we, Japanese, have been considered to be genetically homogeneous, we are genetically heterogeneous due to social and geographical isolations in the medieval era as shown in the present study.
Consequently, each local cluster has unique population genetic profiles as exemplified by founder mutations for various autosomal recessive diseases. In contrast, no founder mutations were found for autosomal dominant diseases as shown in this project.
These facts imply that recessive diseases are effectively and efficiently diagnosed using founder effects specific to the residential areas.
We tried to evaluate functionally the mutated proteins in an attempt to develop a general methodology to predict functional alterations. In this project, we evaluated mutations of proinsulin Akita as an example.
The prevalences of genetic diseases are very widely perturbed by the population history and social systems. It is necessary to promote research activities for genetic epidemiology and functional proteomics

  • Research Products

    (27 results)

All Other

All Publications (27 results)

  • [Publications] Kubota T.: "Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torre sundrome phenotype"J. Dermatol. Sci.. 23. 117-125 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Habuchi T.: "Association of Vitamin F recptor gene polymorphisms with prostata cancer and benign prosfatic hyperplasia in a Japanese population"Cancer Res.. 60. 305-308 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Noguchi A.: "SLC7A7 gemonic structure and novel variants in three Japanese lysinuric prootein intolerance families"Human Mutation.. 15. 367-372 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kayo T.: "A Identification of two chromosomal Loci determining glucose intolerance in a C57BL/6 mouse strain"Comparative Medicine. 50. 296-302 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Koizumi A.: "Excesive clustring of lysinuric protein intolerance (LPI) patinets in a nothermn part of Japan due to a founder effect"Hum. Mutation. 16. 270-270 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Shioya T.: "Hereditary hemorrhagic telangiectasia (HHT) in Akita Prefecture, Japan"Int. Med.. 39. 675-676 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Takahashi T.: "A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3"Biochem. Biophys. Res. Commun.. 284. 650-654 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Nozaki J.: "Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder"Biochem. Biophys. Res. Commun.. 284(2). 255-260 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Abe T.: "Suppression of experimental autoimmune uveoretinitis by dietary calorie restriction"Jpn. J. Ophthalmol.. 45・1. 46-52 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Fujita H.: "An Increased Expression of Glutathione S-Transferases in the Renal Proximal Tubuli in the Early Stage of Diabetes : a Study in a Mouse Model of Type 2 Diabetes, Akita Mouse"Exp. Nephrol.. 9. 380-386 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Dakeishi M.: "Genetic epidemiology of hereditary hemorrhagic telagioectasia in a ocalcommunity in the northern part of Japan"Human Mutation. 19. 149-158 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Seiichi Oyadomari: "A targeted disruption of The CHOP gene protects mice against ER stress-induced diabetes"J. Clin. Invest.. 109. 525-532 (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Inoue S.: "Mutation Analysis of PKD1 in Japanese Autosomal Dominant Polycystic Kidney Disease (ADPKD) Patients"Human Mutation. (in press). (2002)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] 小泉 昭夫(分担): "公衆衛生学"放送大学出版. (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] Kubota T,: "Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torresundrome phenotype"J. Dermatol. Sci.. 23. 117-125 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Habuchi T: "Association of Vitamin F. recpter gene polymorphisms with prostata cancer and benign prostatic hyperplasia in a Japanese population"Cancer Res.. 60. 305-308 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Noguchi A: "SLC7A7 gemonic structure and novel variants in three Japanese lysinuric -prootein intolerance families"Human Mutation. 15. 367-372 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Kayo T.: "Identification of two chromosomal Loci determining glucose intolerance in a C57BL/6 mouse strain"Comparative Medicine. 50. 296-302 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Koizumi A,: "Excesive clustring of lysinuric protein intolerance (ILP) patinets in a nothermn part of Japan due to a founder effect"Hum Mutat. 16. 270-1 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Shioya T,: "Hereditary hemorrhagic telangiectasia (HHT) in Akita Prefecture"Japan Int Med. 39. 675-676 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Takahashi T: "A new locus for a dominant form of multinodular goiter on 3q26. 1-q26. 3."Biochem Biophys Res Commun. 284. 650-654 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Nozaki J.: "Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder"Biochem Biophys Res Commun. 284(2). 255-60 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Abe T: "Suppression of experimental autoimmune uveoretinitis by dietary calorie restriction"Jpn J Ophthalmol Jan-Feb. 45(1). 46-52 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Fujita H,: "An Increased Expression of Glutathione S-Transferases in the Renal Proximal Tubuli in the Early Stage of Diabetes : a Study in a Mouse Model of Type 2 Diabetes, Akita Mouse"Exp Nephrol. 9. 380-386 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Dakeishi M.: "Genetic epidemiology of hereditary hemorrhagic telagioectasia in a localcommunity in the northern part of Japan"Human Mut.. 19. 149-148 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Seiichi Oyadomari: "A targeted disruption of The CHOP gene protects mice against ER stress-induced diabetes"J Clin Invest. 109. 525-532 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] Inoue S,: "Mutation Analysis of PKD1 in Japanese Autosomal Dominant Polycystic Kidney Disease (ADPKD) Patients"Human Mutation. (in press).

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2003-09-17  

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