title: Rapid haplotyping of mutations in the Duffy gene using the polymerase chain reaction and sequence-specific primers.
abstract: The molecular basis for the antigenic variation and red cell expression of the Duffy antigen system has recently been elucidated. We have developed a simple one-step method for genotyping the single nucleotide polymorphisms in the promoter and exon of the Duffy gene using the polymerase chain reaction and sequence-specific primers (PCR-SSP). This method is also capable of haplotyping alleles at the two polymorphisms as being in cis or trans orientation. Twenty-four serologically typed Caucasoid and Afro-Caribbean samples were examined to validate the method, with absolute correlation between phenotype and genotype. A further 30 Gambian samples were genotyped, confirming homozygosity for the FY*null-FY*B haplotype. Allele, gene and haplotype frequencies were examined in 100 Caucasoid controls. This method permits the rapid genotyping of large numbers of samples and will prove useful as a clinical and research tool.
authors.affiliation: Nuffield Department of Surgery, Churchill Hospital, Headington, Oxford, United Kingdom. cmulligh@hgmp.mrc.ac.uk
authors.forename: C G
authors.initials: CG
authors.lastname: Mullighan
authors.forename: S E
authors.initials: SE
authors.lastname: Marshall
authors.forename: G C
authors.initials: GC
authors.lastname: Fanning
authors.forename: D C
authors.initials: DC
authors.lastname: Briggs
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
mesh_terms: D000483:Alleles; D000940:Antigenic Variation; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D004375:Duffy Blood-Group System / Q000235:genetics*; D004912:Erythrocytes / Q000276:immunology; D005091:Exons; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D004375:Duffy Blood-Group System