The low-incidence blood group antigen, Wd(a), is associated with the substitution Val(557)->Met in human erythrocyte band 3 (AE1)

The Waldner blood group antigen (Wd(a)) was first identified in members of a Hutterite kindred. Evidence that the gene governing the Waldner polymorphism is located on chromosome 17, and the observation that the antigen is inactivated by chymotrypsin prompted the investigation of a possible association between Wd(a) and band 3. Single Stranded Conformational Polymorphism (SSCP) analysis and DNA sequence analysis of the AE1 gene, from subjects of known Waldner phenotypes, showed a heterozygous mutation leading to the substitution Val(557)-->Met in the presumptive Wd(a+) heterozygotes. Therefore the Wd(a) blood group antigen is associated with the presence of Met(557) on band 3. The Waldner antigen has been assigned to the Diego blood group system with the International Society of Blood Transfusion number DI5.