title: A 3.0-kb deletion including an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene in an individual with the Bm phenotype.
abstract: We developed a sequence-specific primer PCR (SSP-PCR) for detection of a 5.8-kb deletion (B(m) 5.8) involving an erythroid cell-specific regulatory element in intron 1 of the ABO blood group gene. Using this SSP-PCR, we performed genetic analysis of 382 individuals with Bm or ABm. The 5.8-kb deletion was found in 380 individuals, and disruption of the GATA motif in the regulatory element was found in one individual. Furthermore, a novel 3.0-kb deletion involving the element (B(m) 3.0) was demonstrated in the remaining individual. Comparisons of single-nucleotide polymorphisms and microsatellites in intron 1 between B(m) 5.8 and B(m) 3.0 suggested that these deletions occurred independently.
authors.affiliation: Department of Legal Medicine, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Sano
authors.forename: E
authors.initials: E
authors.lastname: Kuboya
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: R
authors.initials: R
authors.lastname: Kubo
authors.forename: Y
authors.initials: Y
authors.lastname: Kominato
authors.forename: H
authors.initials: H
authors.lastname: Takeshita
authors.forename: H
authors.initials: H
authors.lastname: Yamao
authors.forename: T
authors.initials: T
authors.lastname: Kishida
authors.forename: K
authors.initials: K
authors.lastname: Isa
authors.forename: K
authors.initials: K
authors.lastname: Ogasawara
authors.forename: M
authors.initials: M
authors.lastname: Uchikawa
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D041905:Erythroid Cells / Q000378:metabolism*; D017353:Gene Deletion; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D000017:ABO Blood-Group System
keywords: ABO gene; Bm; SSP-PCR; enhancer; transcription