A familial case of ABO phenotype-genotype discrepancy.

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

Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Fukuoka igaku zasshi = Hukuoka acta medica 2013 Feb

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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.

Citation

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