Mass blood group genotyping in Brazilian blood donors: applications to transfusion medicine

Abstract

Mass genotyping for blood groups using DNA microarrays can be a potential source of new and more complete information about random and rare alleles in various populations. Such information would improve patient safety and blood transfusion compatibility, motivating recent interest in the development of high-throughput SNP screening technologies suitable for the determination of blood group polymorphisms. These assays with phenotyped donors and polytransfused patients from populations of different ethnic background should avoid false-positive or false-negative results due to the presence of unrecognized alleles. Our objective is to determine the feasibility of large scale DNA analysis using a Beadchip containing a total of 20 alleles (RHD, RHC/c, RHE/e, FYA/B, FY-GATA, FY265, DOA/B, COA/B, LWA/B, DIA/B, SC1/SC2, M/N, S/s, LUA/B, KEL1/2, JKA/B, DO323, DO350) in a Brazilian population of diverse ethnic background and to constitute a blood donor bank genotyped for the most important blood groups. We are also intending to develop a microarray for RH genotyping that could include the most important RH variants for Brazilian population. This new technology has enormous potential to determine frequencies for known alleles and to detect new mutations in patients and donors. (AU)