title: 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.
abstract: 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 position c.28 + 5830) in the regulatory element of the A allele that might diminish transcription activity causing the generation of the Am B phenotype.
authors.affiliation: Japanese Red Cross, Kinki Block Blood Center, Osaka, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Oda
authors.forename: K
authors.initials: K
authors.lastname: Isa
authors.forename: K
authors.initials: K
authors.lastname: Ogasawara
authors.forename: K
authors.initials: K
authors.lastname: Kameyama
authors.forename: K
authors.initials: K
authors.lastname: Okuda
authors.forename: M
authors.initials: M
authors.lastname: Hirashima
authors.forename: H
authors.initials: H
authors.lastname: Ishii
authors.forename: K
authors.initials: K
authors.lastname: Kimura
authors.forename: H
authors.initials: H
authors.lastname: Matsukura
authors.forename: F
authors.initials: F
authors.lastname: Hirayama
authors.forename: K
authors.initials: K
authors.lastname: Kawa
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D001665:Binding Sites; D001782:Blood Donors; D041905:Erythroid Cells / Q000378:metabolism*; D050980:GATA Transcription Factors / Q000378:metabolism; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D017354:Point Mutation; D012045:Regulatory Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: D000017:ABO Blood-Group System; D050980:GATA Transcription Factors
keywords: ABO blood group; AmB phenotype; GATA factor-binding motif; enhancer; transcription