A Family Study of Ael02 Allele Expressing Different Phenotypes Depending on Co-inherited ABO Alleles / 대한수혈학회지

ABSTRACT

Compared with A101, Ael02 is characterized by 467C>T, 646T>A and 681G>A polymorphisms, resulting in two amino acid substitutions (Pro156Leu and Phe216Ile). The first study in Korea was reported at 2003. However, only unrelated donors were characterized. This study carried out molecular genetic analysis of a 26 year-old male propositus diagnosed with the Ael subgroup by serological tests along with his family. The propositus had the genotype Ael02/B101 expressing the AelB phenotype, and his father the genotype Ael02/O01 expressing the O phenotype. These findings suggest that the AelO2 allele is expressed as different phenotypes depending on the co-inherited ABO alleles.