A Case of A1B3 Child from a Group A Mother and a Group B Father: New Group B Allele Arising from 547G>A / 대한수혈학회지

Group B subtype, A1B3, was observed in a 22-year-old blood donors by conventional serologic test. In our family study, his father demonstrated uncomplicated B phenotype and his mother typed as group A. We sequenced exon 6 and 7 of phenotypically A1B3 propositus and his family members by direct sequencing and PCR-based cloning. And we have identified a novel Bvar allele characterized by a 547G>A polymorphism present in propositus and his father. This suggests that the Bvar allele is expressed differently depending on the co-inherited ABO allele.