A familial case of ABO phenotype-genotype discrepancy.

Akiko Tsuji, Masayuki Seitoku, Naomi Sameshima, Yosuke Usumoto, Keiko Kudo, Noriaki Ikeda

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)40-45
Number of pages6
JournalUnknown Journal
Issue number2
Publication statusPublished - Feb 2013

All Science Journal Classification (ASJC) codes

  • General Medicine


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