Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.
The A4GALT locus encodes a glycosyltransferase that synthesizes the terminal Galα1-4Gal of the P(k)(Gb3/CD77) glycosphingolipid, important in transfusion medicine, obstetrics and pathogen susceptibility. Critical nucleotide changes in A4GALT not only abolish P(k) formation but also another Galα1-4Gal-defined antigen, P1, which belongs to the only blood group system for which the responsible locus
