Article
A novel mutation of the GATA site in the erythroid cell-specific regulatory element of the ABO gene in a blood donor with the Am B phenotype.
Vox sanguinis - 1 May 2015
Oda A, Isa K, Ogasawara K, Kameyama K, Okuda K, Hirashima M, Ishii H, Kimura K, Matsukura H, Hirayama F, Kawa K
Abstract excerpt
The Am and Bm phenotypes are characterized by weak expression of the A or B antigens, respectively, by red blood cells with a normal expression by the saliva of secretors. Deletion of the regulatory element in the first intron of the ABO gene and disruption of the GATA motif in the element were found to be responsible. In this study, we identified a novel mutation within the GATA motif (G>C substitution at...
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