The low-incidence blood group antigen, Wda, is associated with the substitution Val557-->Met in human erythrocyte band 3 (AE1).
The Waldner blood group antigen (Wda) 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 Wda 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 Val557-->Met in the presumptive Wd(a+) heterozygotes. Therefore the Wda blood group antigen is associated with the presence of Met557 on band 3. the Waldner antigen has been assigned to the Diego blood group system with the International Society of Blood Transfusion number D15.
Bruce
L J
LJ
Department of Biochemistry, School of Medical Sciences, University of Bristol, UK.
Zelinski
T
T
Ridgwell
K
K
Tanner
M J
MJ
D001789:Blood Group Antigens / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D004912:Erythrocytes / Q000276:immunology*; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic
D001789:Blood Group Antigens