title: A novel FY*A allele with the 265T and 298A SNPs formerly associated exclusively with the FY*B allele and weak Fy(b) antigen expression: implication for genotyping interpretative algorithms.
abstract: OBJECTIVE
  An Australian Caucasian blood donor consistently presented a serology profile for the Duffy blood group as Fy(a+b+) with Fy(a) antigen expression weaker than other examples of Fy(a+b+) red cells. Molecular typing studies were performed to investigate the reason for the observed serology profile.
  
  
  METHODS
  Blood group genotyping was performed using a commercial SNP microarray platform. Sanger sequencing was performed using primer sets to amplify across exons 1 and 2 of the FY gene and using allele-specific primers.
  
  
  RESULTS
  The propositus was genotyped as FY*A/B, FY*X heterozygote that predicted the Fy(a+b+(w) ) phenotype. Sequencing identified the 265T and 298A variants on the FY*A allele. This link between FY*A allele and 265T was confirmed by allele-specific PCR.
  
  
  CONCLUSIONS
  The reduced Fy(a) antigen reactivity is attributed to a FY*A allele-carrying 265T and 298A variants previously defined in combination only with the FY*B allele and associated with weak Fy(b) antigen expression. This novel allele should be considered in genotyping interpretative algorithms for generating a predicted phenotype.
authors.affiliation: Research and Development, Australian Red Cross Blood Service, Kelvin Grove, Qld, Australia.
authors.forename: G H
authors.initials: GH
authors.lastname: Lopez
authors.forename: J A
authors.initials: JA
authors.lastname: Condon
authors.forename: B
authors.initials: B
authors.lastname: Wilson
authors.forename: J R
authors.initials: JR
authors.lastname: Martin
authors.forename: Y-W
authors.initials: YW
authors.lastname: Liew
authors.forename: R L
authors.initials: RL
authors.lastname: Flower
authors.forename: C A
authors.initials: CA
authors.lastname: Hyland
mesh_terms: D000465:Algorithms; D000483:Alleles; D001315:Australia; D001782:Blood Donors; D004375:Duffy Blood-Group System / Q000235:genetics*; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D004375:Duffy Blood-Group System
keywords: Duffy blood group; FY*01W.02; novel FY*A allele; reduced Fya expression