An overview of blood group genotyping
Geoff Daniels
Abstract
Abstract: Predicting blood group phenotypes from DNA sequence, an alternative method to conventional blood group serology, began shortly after the molecular genetic bases of many blood group polymorphisms were ascertained in the 1990s. A variety of platforms have now been developed and commercialised, and are discussed in this review. Blood group genotyping is usually applied when no suitable red cell sample is available, when genomic testing will provide more or better information than serological testing, or when genomic testing is more efficient or cost effective than serological testing. One important application is the determination of fetal D (RH1) phenotype from fetal DNA present in the mother’s blood, to assess the risk of haemolytic disease of the fetus and newborn or the requirement for antenatal anti-D immunoglobulin treatment. Other applications are discussed, including the use of high-throughput genotyping technologies to make it possible to screen large numbers of blood donors for multiple clinically significant blood groups and their variants, to improve matching between donors and patients to provide a higher degree of precision medicine.