title: ABO alleles are linked with haplotypes of an erythroid cell-specific regulatory element in intron 1 with a few exceptions attributable to genetic recombination.
abstract: Recent investigation of transcriptional regulation of the ABO genes has identified a candidate erythroid cell-specific regulatory element, named the +5·8-kb site, in the first intron of ABO. Six haplotypes of the site have been reported previously. The present genetic population study demonstrated that each haplotype was mostly linked with specific ABO alleles with a few exceptions, possibly as a result of hybrid formation between common ABO alleles. Thus, investigation of these haplotypes could provide a clue to further elucidation of ABO alleles.
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
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: 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: K
authors.initials: K
authors.lastname: Watanabe
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Kubo
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.affiliation: Department of Legal Medicine, Shimane University School of Medicine, Izumo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takeshita
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kominato
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D041905:Erythroid Cells / Q000378:metabolism*; D006239:Haplotypes; D006801:Humans; D007438:Introns; D010641:Phenotype; D011995:Recombination, Genetic; D012045:Regulatory Sequences, Nucleic Acid
chemical_list: D000017:ABO Blood-Group System
keywords: ABO; enhancer; genetic recombination; haplotypes