title: Frequent occurrence of a variant O1 gene at the blood group ABO locus.
abstract: Blood group ABO polymorphism was analysed in genomic DNA isolated from 150 blood donors by restriction endonuclease digestion of three polymerase chain reaction-amplified exons in the ABO genes and by sequencing of randomly selected samples. An anomalous O1 allele first described in a cancer cell line is now shown to account for approximately 40% of the O alleles described to date. This is 10 times more frequent than the only other known variant O allele (O2). This variant O1 allele has at least seven point mutations when compared to the consensus gene, in addition to the deletion characterising the normal O1 allele.
authors.affiliation: Blood Centre, University Hospital, Lund, Sweden.
authors.forename: M L
authors.initials: ML
authors.lastname: Olsson
authors.forename: M A
authors.initials: MA
authors.lastname: Chester
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D000017:ABO Blood-Group System