Mutation of the<scp>GATA</scp>site in the erythroid cell–specific regulatory element of the<scp>ABO</scp>gene in a<scp>B</scp>_msubgroup individual

Abstract

These observations suggest that the mutation in the GATA motif of the erythroid-specific regulatory element may diminish the binding of GATA transcription factors and down regulate transcriptional activity of the element on the B allele, leading to reduction of B antigen expression in erythroid lineage cells of the Bm individual.