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Haplotype analysis of polymorphic genes and its forensic application

Research Project

Project/Area Number 16390197
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionKurume University

Principal Investigator

KODA Yoshiro  Kurume University School of Medicine, Forensic Medicine and Human Genetics, Professor, 医学部, 教授 (90231307)

Co-Investigator(Kenkyū-buntansha) SOEJIMA Mikiko  Kurume University School of Medicine, Forensic Medicine and Human Genetics, Research Associate, 医学部, 助手 (80279140)
TSUNEOKA Makoto  Kurume University School of Medicine, Research Center for Innovative Cancer Therapy, Associate Professor, 先端癌治療研究センター, 助教授 (50197745)
Project Period (FY) 2004 – 2005
Project Status Completed (Fiscal Year 2005)
Budget Amount *help
¥7,500,000 (Direct Cost: ¥7,500,000)
Fiscal Year 2005: ¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2004: ¥3,900,000 (Direct Cost: ¥3,900,000)
KeywordsSNPs / DHPLC / sequence vriation / haplotype analysis / natural selection / polymorphisms / 遺伝子多型 / SNPs
Research Abstract

It is possible that the identification of informative loci as genetic marker and establishments of simple and useful analytical methods are important in forensic field. Among the markers, Ancestral informative markers (AIMs) are becoming useful for forensic identification of the phenotype from a DNA profile samples for example from a crime scene. We analyzed genetic regions that are rich in polymorphism and that show population specific variation. In addition, we also determined the haplotypes of the genes of which coding polymorphisms are observed around the world by sequence analysis. The Denaturing High-performance Liquid Chromatography (DHPLC) method was introduced to this project because of its different principle for mutation detection from that of sequencing or other electrophoresis. We could get some results. 1)We showed the haplotypes of promoter of the haptoglobin is one of informative genetic marker because few haplotypes were shared among three major populations. 2)Some SNPs surrounding the A293C of C6, that is difference between C6A and C6B, were linked together among three major human populations. A293C was shown to be possible target site of balancing selection by statistical tests. 3)We found STR locus 3.8 kb downstream of the FUT2 coding region and the pattern of sequence and repeat polymorphism of this STR showed not only the coding region of the FUT2 but this locus is good genetic marker. 4)The genetic background of two Sri Lankan populations (Tamils and Sinhalese) is shown to be similar but not identical by genetic variation of the FUT2 and FUT3. In addition, we introduced DHPLC method to genotyping of the FUT2 and showed this method is applicable. 5)The haplotype containing the European specific derived SNP,374F of melanogenetic gene AIM-1 (one of AIMs) was shown to be spread recently by directional selection in some regions by statistical analyses.

Report

(3 results)
  • 2005 Annual Research Report   Final Research Report Summary
  • 2004 Annual Research Report
  • Research Products

    (26 results)

All 2006 2005 2004

All Journal Article (26 results)

  • [Journal Article] Haptoglobin gene promoter polymorphism and haplotypes are unique in different populations.2006

    • Author(s)
      Teye K, et al.
    • Journal Title

      Human Biology 78

      Pages: 121-126

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Evidence for recent positive selection at the human AIM1 locus in a European population.2006

    • Author(s)
      Soejima M, et al.
    • Journal Title

      Molecular Biology and Evolution 23

      Pages: 179-188

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease.2006

    • Author(s)
      Hiromatsu Y, et al.
    • Journal Title

      Diabetic Medicine 23

      Pages: 211-215

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Evidence for recent positive selection at the human AIM1 locus in a European population.2006

    • Author(s)
      Soejima M et al.
    • Journal Title

      Mol Biol Evol 23

      Pages: 179-188

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] IL-18 gene polymorphism confers susceptibility to the development of anti-GAD65 antibody in Graves' disease.2006

    • Author(s)
      Hiromatsu Y et al.
    • Journal Title

      Diabet Med 23

      Pages: 211-215

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Lack of association of interleukin-18 gene polymorphisms with susceptibility of Japanese populations to graves' disease or graves' ophthalmopathy.2006

    • Author(s)
      Mukai T et al.
    • Journal Title

      Thyroid 16

      Pages: 243-248

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Expression of Mina53, a product of a Myc target gene in mouse testis.2006

    • Author(s)
      Tsuneoka M et al.
    • Journal Title

      Int J Androl 29

      Pages: 323-330

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Haptoglobin gene promoter polymorphism and haplotype are unique in different populations.2006

    • Author(s)
      Teye K et al.
    • Journal Title

      Human Biology 78

      Pages: 121-126

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] DHPLC-based genotyping and genetic variation of the FUT2 in Sri Lanka.2005

    • Author(s)
      Soejima M, Koda Y
    • Journal Title

      Transfusion 45

      Pages: 1934-1939

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Molecular mechanisms of Lewis antigen expression.2005

    • Author(s)
      Soejima M, Koda Y
    • Journal Title

      Legal Medicine (Tokyo) 7

      Pages: 266-269

    • NAID

      10027261453

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Interleukin-13 gene polymorphisms confer the susceptibility of Japanese populations to Graves' disease.2005

    • Author(s)
      Hiromatsu Y, et al.
    • Journal Title

      Journal of Clinical Endocrinology & Metabolism 90

      Pages: 296-301

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.2005

    • Author(s)
      Soejima M et al.
    • Journal Title

      Ann Hum Genet 69

      Pages: 239-252

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma.2005

    • Author(s)
      Tsuneoka M et al.
    • Journal Title

      J Biol Chem 280

      Pages: 19977-19985

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Glucose-dependent insulinotropic polypeptide (GIP) stimulation of pancreatic beta-cell survival is dependent upon phosphatidylinositol 3-kinase (PI3K)/protein kinase B (PKB) signaling, inactivation of the forkhead transcription factor Foxol, and down-regulation of bax expression.2005

    • Author(s)
      Kim SJ et al.
    • Journal Title

      J Biol Chem 280

      Pages: 22297-22307

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Denaturing high-performance liquid chromatography-based genotyping and genetic variation of FUT2 in Sri Lanka.2005

    • Author(s)
      Soejima M et al.
    • Journal Title

      Transfusion 45

      Pages: 1934-1939

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular mechanisms of Lewis antigen expression.(Review)2005

    • Author(s)
      Soejima M et al.
    • Journal Title

      Leg Med (Tokyo) 7

      Pages: 266-269

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Nucleotide Sequence Analyses of Human Complement 6 (C6) Gene Suggest Balancing Selection2005

    • Author(s)
      Soejima M, Tachida H, Tsuneoka M, et al.
    • Journal Title

      Ann Hum Genet In press

    • Related Report
      2004 Annual Research Report
  • [Journal Article] A novel tetrameric short tandem repeat located in the 3' flanking region of the human ABO-secretor gene (FUT2) and association between FUT2 and FUT2/01 loci.2004

    • Author(s)
      Pang H et al.
    • Journal Title

      Hum Biol 76

      Pages: 789-795

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Mina53 as a potential prognostic factor for esophageal squamous cell carcinoma.2004

    • Author(s)
      Tsuneoka M et al.
    • Journal Title

      Clin Cancer Res 10

      Pages: 7347-7356

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Enhanced expression of interleukin-18 and its receptor in idiopathic pulmonary fibrosis.2004

    • Author(s)
      Kitasato Y et al.
    • Journal Title

      Am J Respir Cell Mol Biol 31

      Pages: 619-625

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Two novel FUT3 alleles responsible for Lewis-null phenotypes in Sri Lanka.2004

    • Author(s)
      Soejima M et al.
    • Journal Title

      Transfusion 44

      Pages: 1534-1535

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A novel tetrameric short tandem repeat located in the 3'flanking region of the human ABO-secretor gene (FUT2) and association between FUT2 and FUT2/01 loci2004

    • Author(s)
      Pang H, Soejima M, Koda Y, et al.
    • Journal Title

      Human Biol 5

      Pages: 789-795

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Mina53 as a potential prognostic factor for esophageal squamous cell carcinoma2004

    • Author(s)
      Tsuneoka M, Fujita H, Arima N, et al.
    • Journal Title

      Clin Cancer Res 10

      Pages: 7347-7356

    • Related Report
      2004 Annual Research Report
  • [Journal Article] T wo novel FUT3 alleles responsible for Lewis-null phenotypes in Sri Lanka.2004

    • Author(s)
      Soejima M, Kimura H, Koda Y.
    • Journal Title

      Transfusion 44

      Pages: 1534-1535

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene.2004

    • Author(s)
      Koda Y, Tachida H, Soejima M, et al.
    • Journal Title

      Ann Hum Genet 68 (Pt 2)

      Pages: 110-119

    • Related Report
      2004 Annual Research Report
  • [Journal Article] A novel 1247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.2004

    • Author(s)
      Teye K, Quaye IK, Koda Y, et al.
    • Journal Title

      Hum Genet 114

      Pages: 499-502

    • Related Report
      2004 Annual Research Report

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Published: 2004-04-01   Modified: 2016-04-21  

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