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The Low‐Incidence Blood Group Antigen, Wd a , Is Associated with the Substitution Val 557 → Met in Human Erythrocyte Band 3 (AE1)
Author(s) -
Bruce Lesley J.,
Zelinski Teresa,
Ridgwell Kay,
Tanner Michael J. A.
Publication year - 1996
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1046/j.1423-0410.1996.7120118.x
Subject(s) - antigen , biology , gene , genetics , single strand conformation polymorphism , band 3 , allele , phenotype , polymorphism (computer science) , microbiology and biotechnology , mutation , membrane protein , membrane
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.