Two A(weak)B Cases with Aw10 Allele Separated by Allele-specific Sequencing / 대한수혈학회지

We separated an Aw10 allele by allele-specific sequencing in two Aw10/B101 samples that had the AweakB phenotype. Two samples with the A102/B101 genotype were also tested as a control. The reverse primers using position 930 at exon7 were designed for allele-specific sequencing. The differential positions were a total of 52 points for distinguishing the A-allele from the B-allele. Although overlaps with another haplotype allele that showed a minor chromatographic peak were observed in almost all the points, the specific allele-separation rate was 100% (52/52) by assessing the dominance in the chromatographic peak height. Based on the separation rate in the two cases with Aw10/B101 and the two AB controls, allele-specific sequencing is a convenient and reliable method for the separating the A-allele and B-allele in a clinical laboratory.

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

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.