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The molecular genetic analysis and its application of single nucleotide polymorphisms and microsatellite in both RH genes.

Research Project

Project/Area Number 13670434
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Legal medicine
Research InstitutionJichi Medical School

Principal Investigator

OKUDA Hiroshi  Jichi Medical School, medical Department, Assistant Professor, 医学部, 助教授 (50285772)

Co-Investigator(Kenkyū-buntansha) KAMESAKI Toyomi  Jichi Medical School, medical Department, Lecturer, 医学部, 講師 (90316513)
IWAMOTO Sadahiko  Jichi Medical School, medical Department, Professor, 医学部, 助教授 (10232711)
KAJII Eiji  Jichi Medical School, medical Department, Professor, 医学部, 教授 (40204391)
OMI Toshinoro  Jichi Medical School, medical Department, Assistant lecturer, 医学部, 助手 (40296091)
KUMADA Maki  Jichi Medical School, medical Department, Assistant lecturer, 医学部, 助手 (40326830)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2002: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2001: ¥2,000,000 (Direct Cost: ¥2,000,000)
KeywordsRh blood group system / Rh variant / Nucleotide substitution / Gaps / Rh genotyping / Recombination / Molecular evolution / microsatellite / single nucleotide polymorphisms
Research Abstract

The Rh blood group discovered by Levine and Stetson is clinically one of the most important blood groups. Many serological investigations have revealed and a lot of variants such as D-, partial D and antigens from forty up were identified. Studies during the 1980s confirmed that Rh antigens were polypeptides. Their cDNAs coding Rh polypeptides were cloned and compared with each phenotype. Investigations during the 1990s indicated that the Rh system was encoded on two genes termed RHCE and RHD, which are closely linked, highly homologous and consist of ten exons each. It is thought that multiple recombination (and/or gene conversion), nucleotide substitutions, small nucleotide gaps, replication slippage of microsatellite, large nucleotide gaps (due to Alu sequence) and the high level of the homology (%) between both RH genes is the important factors in the formation and evolution of both RH genes and Rh variants.
We analyzed DTI (partial D), Rh_<mod> and weakD, which are Rh variant, and reported the molecular genetic background of them. Due to the findings obtained by the analysis of these Rh variants (DTI(partial D), Rhmod and weakD), we speculated the mechanism of the expression of Rh antigen (polypeptide).
The mouse genomic sequence of the region containing the gene Rhced, the orthologue to the human gene RH30, was determined to elucidate the structure of Rhced and its flanking regions and to compare these with the corresponding human genomic region.
Due to the analysis of phylogenetic trees, it is supposed that the RHCE changes into the gene which acquire other function by positive selection and the RHD genes varies into pseudogene in process of time during evolution.

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (19 results)

All Other

All Publications (19 results)

  • [Publications] 奥田浩: "RH遺伝子の分子進化学的解析"DNA多型. 9. 220-225 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kamesaki T: "Molecular characterization of weak D phenotypes by site-directed mutagenesis and expression of mutant Rh-green fluorescence protein fusions in K562 cells"Vox Sang. 81. 254-258 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kamesaki T: "A new mutation detected in RhAG of a Japanese family with Rh(mod) syndrome may form a longer RhAG protein"Transfusion. 42. 383-384 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kumada M: "Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence"Gene. 299. 165-172 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Okuda H: "The evolution and formation of RH genes"Legal Medicine. 4. 139-155 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Omi T: "Isolation, characterization, and family study of a novel partial D named DTI affecting the fourth external loop of the RhD polypeptides"Transfusion. 42. 481-489 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Okuda H, Suganuma H, Tsudo N, Kumada M, Kamesaki T, Omi T, Iwamoto S, Kajii E: "The analysis of RH gene's molecular evolution"DNA polymorphism. 9. 220-225 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kamesaki T, Iwamoto S, Kumada M, Omi T, Okuda H, Tanaka M, Takahashi J, Obara K, Seno T, Tani Y, Kajii E: "Molecular characterization of weak D phenotypes by site directed mutagenesis and expression of mutant Rh-green fluorescence protein fusions in K562 cells"Vox Sang. 81. 254-258 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kamesaki T, Iwamoto S, Kajii E, Takahashi J, Kimura K, Nakade T, Tani Y: "A new mutation detected in RhAG of a Japanese family with Rh (mod) syndrome may form a longer RhAG protein"Transfusion. 42. 383-384 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kumada M, Iwamoto S, Kamesaki T, Okuda H, Kajii E: "Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence"Gene. 299. 165-172 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Okuda H, Kajii E: "The evolution and formation of RH genes"Legal Medicine. 4. 139-155 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Omi T, Takahashi J, Seno T, Tanaka M, Hirayama F, Matsuo M, Ueda N, Ohar R, Okuda H, Iwamoto S, Tani Y, Kajii E: "Isolation, characterization, and family study of a novel partial D named DTI affecting the fourth external loop of the RhD polypeptides"Transfusion. 42. 481-489 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 奥田浩: "RH遺伝子の分子進化学的解析"DNA多型. 9. 220-225 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kamesaki T: "Molecular characterization of weak D phenotypes by site-directed mutagenesis and expression of mutant Rh-green fluorescence protein fusions in K562 cells"Vox Sang.. 81. 254-258 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kamesaki T: "A new mutation detected in RhAG of a Japanese family with Rh(mod)syndrome may form a longer RhAG protein"Transfusion.. 42. 383-384 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kumada M: "Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence"Gene.. 299. 165-172 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Okuda H: "The evolution and formation of RH genes"Legal Medicine.. 4. 139-155 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Omi T: "Isolation, characterization, and family study of a novel partial D named DTI affecting the fourth external loop of the RhD polypeptides"Transfusion.. 42. 481-489 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 奥田浩: "RH遺伝子の分子進化学的解析"DNA多型. 9. 220-225 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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