title: A familial case of ABO phenotype-genotype discrepancy.
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.
authors.affiliation: Department of Forensic Pathology and Sciences, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tsuji
authors.forename: Masayuki
authors.initials: M
authors.lastname: Seitoku
authors.forename: Naomi
authors.initials: N
authors.lastname: Sameshima
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Usumoto
authors.forename: Keiko
authors.initials: K
authors.lastname: Kudo
authors.forename: Noriaki
authors.initials: N
authors.lastname: Ikeda
mesh_terms: D000017:ABO Blood-Group System / Q000097:blood*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D000017:ABO Blood-Group System