New Variant of O02 Allele Found in the Family of Cis-AB: Report of Three Cases in a Family / 대한수혈학회지

ABSTRACT

In preoperative ABO typing, we observed an ABO discrepancy in a 61 year-old patient with A2B3 phenotype. Standard serologic tests for the ABO blood group phenotypes and ABO gene direct sequencing for the exons 6 and 7 were done as part of the patient's family study. We found that the patient's genotype was identical to cis-AB01/O02, except for a 703 G>A polymorphism at exon 7. An allele-separation by cloning and subsequent sequencing of the heterozygote was carried out. We identified a novel O02 variant allele characterized by a 703 G>A polymorphism in the patient and in her 2 daughters.