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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.


Akiko Tsuji, Masayuki Seitoku, Naomi Sameshima, Yosuke Usumoto, Keiko Kudo, Noriaki Ikeda. A familial case of ABO phenotype-genotype discrepancy. Fukuoka igaku zasshi = Hukuoka acta medica. 2013 Feb;104(2):40-5

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PMID: 23691599

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