title: Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3.
abstract: Recently, the involvement of mutation and deletion of transcription regulatory elements in the Bm , Am , A3 and B3 phenotypes has been reported. In the present study, we carried out genetic analysis of individuals with A3 and B3 using peptide nucleic acid-clamping PCR to exclude amplification of O alleles. Two single-point mutations, -76G>C and -68G>T, were found in the ABO promoter on the A-allele in three A3 individuals and on the B allele in a B3 individual, respectively. Transient transfection of luciferase reporter plasmids carrying the same mutations into K562 cells revealed decreased luciferase activity in comparison with that carrying the wild-type promoter. These observations suggest that the mutations downregulate the promoter activity, leading to reduction in A- or B-antigen expression on red blood cells in individuals with the A3 and B3 phenotypes.
authors.affiliation: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Isa
authors.affiliation: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamuro
authors.affiliation: Japanese Red Cross Central Blood Institute, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Ogasawara
authors.affiliation: Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Yabe
authors.affiliation: Japanese Red Cross Touhoku Block Blood Center, Sendai, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ogiyama
authors.affiliation: Japanese Red Cross Touhoku Block Blood Center, Sendai, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kominato
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Sano
authors.affiliation: Japanese Red Cross Kanto-Koshinetsu Block Blood Center, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Uchikawa
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification / Q000378:metabolism; D004912:Erythrocytes / Q000378:metabolism; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008969:Molecular Sequence Data; D020135:Peptide Nucleic Acids / Q000378:metabolism; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D050436:Regulatory Elements, Transcriptional
chemical_list: D000017:ABO Blood-Group System; D020135:Peptide Nucleic Acids; D004247:DNA
keywords: A3; ABO blood group; B3; promoter; transcription