Red cell genotyping using buccal swab DNA

Red cell genotyping is used to complement phenotyping data generated using existing serological methods in order to minimize the limitations of using serological methods alone. This is particularly relevant to subgroups of patients and donors, some of which have be m shown to have a higher incidence of rare variant antigens or antigen combinations. In these settings, genotyping offers a quick, high-throughput approach to resolve these challenging cases and possibly to identify rare donors.
DNA for red cell genotyping is currently isolated from peripheral blood specimens. This approach, although practical and easy to perform, is not always a realistic option. For instance, in severely anemic patients requiring additional phlebotomy for RBC genotyping, procuring an additional blood sample may not be ideal. Furthermore, for relatives of patients with possible rare phenotypes who are hesitant about blood donation, mailing buccal swabs may facilitate screening.
A proof-of-principle pilot study demonstrating the feasibility of this approach has already been performed at the Canadian Blood Services-National Immunohematology Reference Laboratory. This study showed that genotyping results were completely concordant with previous phenotyping and genotyping data on consented volunteers. Moreover, analysis of samples that were extracted following 2 weeks of room temperature storage also demonstrated excellent stability with complete between-run concordance.

BERARDI, Philip

Canadian Blood Services

Small Project Funding Program

Ontario

$15,000