title: Detection of ABO blood group polymorphism by denaturing gradient gel electrophoresis.
abstract: We report the use of a polymerase chain reaction (PCR) format together with denaturing gradient gel electrophoresis (DGGE) which allows rapid identification of the 6 major genotypes (AA, AO, BB, BO, AB and OO) of the human ABO blood group polymorphism in a single amplification. The procedure also distinguishes hitherto undescribed polymorphisms associated with the O and B alleles. Thus in testing 95 unrelated European individuals 4 different O alleles, 2 B alleles and 1 A allele were identified by DGGE and the level of recognisable heterozygosity, and hence the information content of the locus as a genetic marker, was raised from 3/95 (3%) to 66/95 (70%). The procedure is robust, genotyping is rapid and clear-cut, and has immediate implications for the use of the ABO locus in linkage analysis on chromosome 9q, the investigation of disease associations and forensic identification.
authors.affiliation: MRC Human Biochemical Genetics Unit, Galton Laboratory (UCL), London, UK.
authors.forename: P H
authors.initials: PH
authors.lastname: Johnson
authors.forename: D A
authors.initials: DA
authors.lastname: Hopkinson
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004586:Electrophoresis / Q000379:methods; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D000017:ABO Blood-Group System; D004247:DNA