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Studies on the genetic analysis of a patient with protein C deficien

Research Project

Project/Area Number 04671433
Research Category

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

Allocation TypeSingle-year Grants
Research Field Laboratory medicine
Research InstitutionMie University

Principal Investigator

IDO Masaru  Mie University, Faculty of Medicine Lecturer, 医学部, 講師 (90167263)

Co-Investigator(Kenkyū-buntansha) SUZUKI Koji  Mie University, Faculty of Medicine Professor, 医学部, 教授 (70077808)
Project Period (FY) 1992 – 1993
Project Status Completed (Fiscal Year 1993)
Budget Amount *help
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1993: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 1992: ¥1,200,000 (Direct Cost: ¥1,200,000)
KeywordsProtein C deficiency / Gene analysis / Prenatal diagnocis / Congenital anomaly / Thrombosis
Research Abstract

We report genetic abnormalities of protein C gene in a male infant who developed neonatal purpura fulminans. DNA-sequence analysis of all cxons in protein C gene in this family revealed two mutations the first abnormality, derived from the mother, was a deletion of one of four consccutive g at nucleotide number 10758 in exon IX which would result in a frame shift mutation and com ; letely change amino acid sequence from Gly381 in the carboxyl-terminal region of protein C.The second abnormality, derived from the father, was a single nucleotide mutation from G to A in the codon (GAG to AAG) at nucleotide number 2977 in exon III, which would result in a substitution of Lys for gamma-carboxyglutamic acid (Gla) 26. This change would be responsible for the reduced immunological protein C levels of the patient and the father, estimated by a monoclonal antibody which recognizes the Gla-domain in a Ca^<2+>-dependent manner (3.8% and 57%, respectively). Partially purified abnormal protein C from the father's plasma showed a normal amidolytic activity and a change in the electrophoretic mobility. We detected the above mutations in his family members using two methods ; one was a creation of new restriction enzyme sites using mutagenic primers and the other was single nucleotide primer extension. Both methods are rapid and useful for the diagnosis of prenatal protein C abnormalities.

Report

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

    (3 results)

All Other

All Publications (3 results)

  • [Publications] Masaru Ido,et al.: "A Compound Heterozygous Protein C Deficiency with a Single Nucleotide G Deletion Encoding Gly-381 and an Amino Acid Substitution of Lys for Gla-26" Thrombosis and Haemostasis. 70. 636-641 (1993)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Masaru Ido, Michiaki Ohiwa, Tatsuya Hayashi, Junji Nishioka, Tsuyoshi Hatada, Yasuyuki Watanabe, Hideo Wada, Shigeru Shirakawa, and Koji Suzuki: "A Compound Heterozygous Protein C Deficiency with a Single Nucleotide G Deletion Encoding Gly-381 and Amino Acid Substitution of Lys for Gla-26" Thrombosis and Haemostasis. 70. 636-641 (1993)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1993 Final Research Report Summary
  • [Publications] Masaru Ido,et al.: "A Compound Heterozygous Protein C Deficiency with a Single Nucleotide G Deletion Encoding Gly-381 and an Amino Acid Substitution of Lys for Gla-26" Thrombosis and Haemostasis. 70. 636-641 (1993)

    • Related Report
      1993 Annual Research Report

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

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