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Clinical application of polymorphisms in coagulation factor XIII A subunit gene and molecular analysis of the patients with its deficiency.

Research Project

Project/Area Number 04670392
Research Category

Grant-in-Aid for General Scientific Research (C)

Allocation TypeSingle-year Grants
Research Field 内科学一般
Research InstitutionKYUSHU UNIVERSITY

Principal Investigator

OKAMURA Takashi  KYUSHU UNIVERSITY, FACULTY OF MEDICINE, ASSITANT PROFESSOR, 医学部, 助手 (30136436)

Co-Investigator(Kenkyū-buntansha) TESHIMA Takanori  KYUSHU UNIVERSITY, FACULTY OF MEDICINE, SENIOR RESIDENT, 医学部, 医員
MURAKAWA Masahiro  KYUSHU UNIVERSITY, FACULTY OF MEDICINE, SENIOR RESIDENT, 医学部, 医員
KAMURA Takumi  KYUSHU UNIVERSITY, FACULTY OF MEDICINE, SENIOR RESIDENT, 医学部, 医員
HARADA Mine  KYUSHU UNIVERSITY, FACULTY OF MEDICINE, ASSOCIATE PROFESSOR, 医学部, 助教授 (00019621)
Project Period (FY) 1992 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 1993: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1992: ¥1,400,000 (Direct Cost: ¥1,400,000)
KeywordsCoagulation factor XIII / Congenital bleeding disorder / Gene analysis / Congental factor XIII deficiency / Gene polymorphism / 先天性凝固XIII因子欠損症
Research Abstract

We newly found two RFLP sites(A and B)which digested by restriction enzyme Pvu II in coagultion factor XIII A subunit gene. By Southern blot analysis using factor XIII A subunit cDNA as a probe, A site present in Intron D formed 7.4 and 7.0kb band, and B site present in Intron I made 6.4 and 6.0kb band. In normal Japanese population, their allele frequencies were 0.66/0.34 and 0.46/0/56, respectively. In clinically, these RFLPs may be useful for a confirmation of the engraftment following allogenic bone marrow transplantation and detection of the carrier state of factor XIII A subunit deficiency.
In two patients with factor XIII A subunit deficiency, gene analyzes were performed. By -PCR method, the exons(II-XV) and adjacent introns were amplified and sequenced. Factor XIII A subunit mRNA from peripheral monocytes were also sequenced. In first case, these sequencing revealed a delection of the dinucleotide AG at the position of 212 and 213 in cDNA number, which correspond to 5' end of Exon III.This deletion appeared to cause a frameshift mutation making a new stop codon shortly thereafter, and leading to a deficiency of plasma factor XIII A subunit. In second case, point mutation (866G->A)in Exon IV was found, and made a substitution of 260 Arg to His. In 50 normal subjects, this point mutation could not be identified. Therefore, this mutation might be associated with the deficiency of factor XIII A subunit. Further analysis should be needed to elucidate why the point mutation causes the deficiency.

Report

(3 results)
  • 1993 Annual Research Report   Final Research Report Summary
  • 1992 Annual Research Report
  • Research Products

    (17 results)

All Other

All Publications (17 results)

  • [Publications] Kamura,T.,Okamura,T.et al.: "Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III" J.Clin.Invest.90. 315-319 (1992)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa,M.,Okamura,T.et al: "Diversity of primary structures of the carboxy-terminal regions of mammalian fibrinogen A_α-chains." Thromb.Haemost.69. 351-360 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa,M.,Okamura,T.et al.: "A comparative study of partial primary structures of the catalytic region of mammalian protein C." Br.J.Haematol.86(in press). (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa,M.,Okamura,T.,et al: "Analysis of the partial nucleotide sequences and deduced primary structures of the protease domains of mammalian blood coagulation factors VII and X." Eur.J.Haematol.(in press). (1994)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Okamura,T.,et al: "A patient with congenital plasminogen deficiency manifesting primary pulmonary hypertension." Int.Med.32. 332-335 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Kamura T,Okamura T, et al.: "Dificiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III." J.Clin Invest. 90. 315-319 (1992)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa M, Okamura T, et al.: "Diversity of primary structures of carboxyterminal regions of mammalian fibrinogen A alpha-chains." Throm Haemostas. 69. 351-360 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa M, Okamura T, et al.: "A comparative study pf partial primary structures of the catalytic regions of mammlian protein C." Br J Haemotol. 86(in press). (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Murakawa M, Okamura T, et al.: "Analysis of the partial nucleotide sequences and deduced primary structures of the protease domains of mammalian blood coagulation factors VII and X." Eur J haematol. (in press). (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Okamura T, et al.: "A patient with congenital plasminogen deficiency manifesting primary pulmonary hypertension." Int Med. 32. 332-335 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Kamura,T.,Okamura,T et al.: "Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5´end of exon III." J.Clin Invest. 90. 315-319 (1992)

    • Related Report
      1993 Annual Research Report
  • [Publications] Murakawa,M.,Okamura,T et al.: "Diversity of primary structuresof the carboxy-terminal ragions mammelian fibrimogen Aalpha-chains." Thronbos Halmostas. 69. 351-360 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Murakawa,M.,Okamura,T et al.: "A comparative study of partial dprinary structures of the cabalytic region of mammalian protein C." Br.J.Haemabol. 86(in press). (1994)

    • Related Report
      1993 Annual Research Report
  • [Publications] Murakawa,M.,Okamura,T et al.: "Analysis of the partial nucliotide sequences and diduced primary stracfures of the proterse domains of mammalian blood coagulation factors VII and X." Eur.J.Haematol.(in press).

    • Related Report
      1993 Annual Research Report
  • [Publications] Okamura,T et al.: "A patient with congerital plasmimogen deficiency manifecting primary pulmonary hypentension" Int.Med.32. 332-335 (1993)

    • Related Report
      1993 Annual Research Report
  • [Publications] Kamura,T,Okamura,T.et al: "Deficiency of coagulation factor XIII A subunit caufed by the dinucleotide deletion at the 5´end of exonIII" J.Clin Invest. 90. 315-319 (1992)

    • Related Report
      1992 Annual Research Report
  • [Publications] Murakawa,M,Okamura,T.et al: "Diversity of primary struotures of the carboxy-terminal regions of mammalian fibrinogen Aα-chains." Thrombos Haemostas. 69. (1993)

    • Related Report
      1992 Annual Research Report

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Published: 1992-04-01   Modified: 2016-04-21  

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