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BACKGROUND: In the Duffy blood group system, the null phenotype Fy(a–b–) has been classically associated with a mutated GATA box, while the Fy^x phenotype weak Fy^b is associated with Arg89Cys and Ala100Thr mutations. This report assesses the prevalence of the Duffy GATA box and the Fy^x‐associated mutations in white and African American (black) donors and investigates the molecular mechanism underlying the Fy^x phenotype.

STUDY DESIGN AND METHODS: PCR RFLP Duffy genotyping was performed on blood samples from blacks and whites. Duffy antigen expression (Fy^a, Fy^b, Fy6, Fy3) on RBCs was measured by flow cytometry. By site‐directed mutagenesis, the relevance of each Fy^x‐associated mutation to Duffy (mRNA, antigen, and protein) expression was analyzed in transfectants by Northern blotting, flow cytometry, and immunoblotting.

RESULTS: The mutated GATA box occurred at a high …