A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S accounting for unusual S antigen expression. Issue 2 (6th December 2018)

• Record Type: Journal Article
• Authors: Suzuki, Yumi; Isa, Kazumi; Ogasawara, Kenichi; Kikuchi, Yuika; Yabe, Ryuichi; Tsuno, Nelson‐Hirokazu; Uchikawa, Makoto; Satake, Masahiro
• Is Part Of: Vox sanguinis. Volume 114:Issue 2(2019)
• Page Start: 171
• Page End: 173
• Publication Date: 2018-12-06
• Subjects: GYPB gene -- MNS blood group -- partial S -- S antigen; Blood -- Periodicals; Blood -- Transfusion -- Periodicals; Immunohematology -- Periodicals; Immunopathology -- Periodicals; 615.39
• DOI: 10.1111/vox.12737
• Languages: English
• ISSNs: 0042-9007

Abstract

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.