Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen

摘要

BackgroundThe molecular genetics of the P blood group system and the absence of P1 antigen in the p phenotype are still enigmatic. One theory proposes that the same gene encodes for both the P1 and P^k glycosyltransferases, but no polymorphisms in the coding region of the P^k gene explain the P1/P2 phenotypes. We investigated the potential regulatory regions up- and downstream of the A4GALT (P^k) gene exons.