Rapid haplotyping of mutations in the Duffy gene using the polymerase chain reaction and sequence-specific primers

Tissue Antigens. 1998 Feb;51(2):195-9. doi: 10.1111/j.1399-0039.1998.tb02964.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Antigenic Variation
  • Base Sequence
  • Black People / genetics
  • DNA Primers / genetics
  • Duffy Blood-Group System / genetics*
  • Erythrocytes / immunology
  • Exons
  • Gene Frequency
  • Haplotypes
  • Humans
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • White People / genetics

Substances

  • DNA Primers
  • Duffy Blood-Group System