A Familial Case of ABO Phenotype-Genotype Discrepancy

DOI HANDLE Web Site PubMed Open Access
  • Tsuji Akiko
    Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University
  • Seitoku Masayuki
    Fukuoka Coast Guard Office | Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University
  • Sameshima Naomi
    Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University
  • Usumoto Yosuke
    Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University
  • Kudo Keiko
    Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University
  • Ikeda Noriaki
    Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University

Bibliographic Information

Other Title
  • ABO式血液型の表現型と遺伝子型が不一致であった家族例

Search this article

Abstract

In the present study, we detected a familial case of ABO phenotype-genotype discrepancy. Although the observed phenotypes were B and O, the corresponding ABO genotypes were AB and AOG, respectively, by routine examination. Exons 6 and 7 of the ABO gene were sequenced and subsequently, the sequence of the allele responsible for ABO phenotype-genotype discrepancy was examined. Our results indicated that the Ax allele was present in 3 family members. By employing traditional serological methods, we further identified and confirmed that the allele Ax and the resulting Ax phenotype are responsible for ABO phenotype-genotype discrepancy.

Journal

  • 福岡醫學雜誌

    福岡醫學雜誌 104 (2), 40-45, 2013-02-25

    Fukuoka Medical Association

Keywords

Details 詳細情報について

Report a problem

Back to top