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A novel c.166A>T (p.Thr56Ser) mutation in GYPB *S accounting for unusual S antigen expression
Author(s) -
Suzuki Yumi,
Isa Kazumi,
Ogasawara Kenichi,
Kikuchi Yuika,
Yabe Ryuichi,
Tsuno NelsonHirokazu,
Uchikawa Makoto,
Satake Masahiro
Publication year - 2019
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/vox.12737
Subject(s) - polyclonal antibodies , proband , antigen , microbiology and biotechnology , monoclonal antibody , antibody , sanger sequencing , cloning (programming) , mutation , exon , monoclonal , biology , chemistry , immunology , genetics , gene , computer science , programming language
We found an individual with weakened S antigen expression on red blood cells ( RBC s) during routine blood grouping. The proband was typed S+s+ by polyclonal antibodies, but the RBC s 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 RBC s, 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.