Molecular characterization of the Fy(a-b-) phenotype in a Polish family

Transfus Apher Sci. 2013 Oct;49(2):313-7. doi: 10.1016/j.transci.2013.06.006. Epub 2013 Jun 29.

Abstract

The Fy(a-b-) phenotype, very rare in Caucasians and defined by the homozygous FY(*)B-33 allele, is associated with the -33T>C mutation in the promoter region of the FY gene. The allele FY(*)X is correlated with weak expression of Fy(b) antigen due to 265C>T and 298G>A mutations in FY(*)B allele. The purpose of this study was molecular characterization of Fy blood group antigens in Fy(a-b-) members of a Polish family. High-resolution melting analysis was performed to detect single nucleotide polymorphisms in amplified fragments of the FY gene. The Fy(a-b-) phenotype in three siblings of the Polish family was caused by the FY(*)X/FY(*)B-33 genotype.

Keywords: Duffy antigen; HRM genotyping.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Duffy Blood-Group System / genetics*
  • Family*
  • Female
  • Genotype*
  • Humans
  • Male
  • Phenotype
  • Point Mutation*
  • Poland
  • Polymorphism, Single Nucleotide*
  • Receptors, Cell Surface / genetics*
  • Siblings

Substances

  • ACKR1 protein, human
  • Duffy Blood-Group System
  • Receptors, Cell Surface