A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S accounting for unusual S antigen expression

Vox Sang. 2019 Feb;114(2):171-173. doi: 10.1111/vox.12737. Epub 2018 Dec 6.

Abstract

We found an individual with weakened S antigen expression on red blood cells (RBCs) during routine blood grouping. The proband was typed S+s+ by polyclonal antibodies, but the RBCs demonstrated different reactivity with three monoclonal anti-S. The proband did not have alloanti-S. Cloning and Sanger sequencing revealed that the proband had a c.166A>T (p.Thr56Ser) mutation in exon 4 of GYPB*S. When antibody screening of 60 455 blood donors was performed using the proband RBCs, no antibodies were detected. GYPB*S with c.166T should encode an unusual S antigen but the creation of a novel antigen remains to be investigated.

Keywords: GYPB gene; MNS blood group; S antigen; partial S.

MeSH terms

  • Blood Donors
  • Blood Group Antigens / genetics*
  • Blood Group Antigens / metabolism
  • Erythrocytes / metabolism
  • Gene Frequency
  • Glycophorins / genetics*
  • Glycophorins / metabolism
  • Humans
  • Mutation*

Substances

  • Blood Group Antigens
  • GYPB protein, human
  • Glycophorins