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International Journal of Hematology

, Volume 73, Issue 3, pp 390–392 | Cite as

One Missense Mutation in the Factor X Gene Causing Factor X Deficiency—Factor X Kanazawa

  • Eriko Morishita
  • Kazuo Yamaguchi
  • Hidesaku Asakura
  • Masanori Saito
  • Masahide Yamazaki
  • Yasuo Ontachi
  • Tomoe Mizutani
  • Minori Kato
  • Shinji Nakao
Case Report

Abstract

We investigated the molecular basis of factor X deficiency in a Japanese patient whose factor X activity and antigen level were 45% and 50% of normal control values, respectively. All exons and intron/exon junctions of the factor X gene were studied using a strategy combining polymerase chain reaction (PCR) amplification and nonradioactive single-strand conformational polymorphism (SSCP) analysis. Exon 5, containing the DNA fragment of the proband, showed aberrant migration by SSCP analysis. All exon-containing DNA fragments amplified by PCR were sequenced, and it was revealed that the proband was a heterozygote for a G → A substitution in exon 5 of the factor X gene of the proband. This mutation predicts an amino acid replacement of arginine (Arg) for glycine (Gly) at codon 114 in the second EGF-like domain.

Key words

Factor X deficiency Bleeding tendency Second EGF-like domain 

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Copyright information

© The Japanese Society of Hematology 2001

Authors and Affiliations

  • Eriko Morishita
    • 1
    • 2
  • Kazuo Yamaguchi
    • 3
  • Hidesaku Asakura
    • 2
  • Masanori Saito
    • 2
  • Masahide Yamazaki
    • 2
  • Yasuo Ontachi
    • 2
  • Tomoe Mizutani
    • 2
  • Minori Kato
    • 2
  • Shinji Nakao
    • 2
  1. 1.Department of Laboratory SciencesSchool of Health ScienceKanazawaJapan
  2. 2.Department of Internal Medicine (III)KanazawaJapan
  3. 3.The Institute for Gene ResearchKanazawa UniversityKanazawaJapan

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