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The highest Duffy (

Sylvia Armstrong-Fisher1, Stan Urbaniak1, Arian Karimi Rouzbahani2,3

  • 1Division of Applied Medicine, Institute of Medical Sciences University of Aberdeen Aberdeen UK.

Health Science Reports
|June 5, 2023
PubMed
Summary

The FYX allele, linked to reduced Duffy antigen expression, was found in 5.41% of Scottish blood donors. Its estimated frequency of 0.0270% is higher than previously reported, impacting Duffy blood group understanding.

Keywords:
BeadChip microarrayDuffy blood groupFYX alleleScottish population

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Area of Science:

  • Hematology
  • Genetics
  • Immunology

Background:

  • The Duffy (FY) blood group system features key antigens Fya and Fyb.
  • The FYX phenotype arises from FYB mutations, causing Duffy protein instability and reduced antigen expression.

Purpose of the Study:

  • To determine the FYX allele frequency in the Scottish population.
  • To contribute to the understanding of Duffy blood group variations.

Main Methods:

  • Serological and molecular investigation of 222 blood donor samples.
  • Phenotyping and genotyping using haemagglutination and BeadChip microarray methods.
  • Confirmatory testing for discrepant results and Duffy DNA sequencing.

Main Results:

  • Duffy phenotypes Fya+, Fya+b+, and Fyb+ occurred at 17.57%, 42.79%, and 39.64% respectively.
  • Genotype frequencies were FYA/FYA (14.41%), FYA/FYB (45.95%), and FYB/FYB (39.64%).
  • The FYX allele was identified in 12 samples (5.41%).

Conclusions:

  • The estimated FYX allele frequency in the Scottish population is 0.0270%.
  • This frequency is higher than previously documented, suggesting a significant presence of this allele.