A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S accounting for unusual S antigen expression
| Autor: | Masahiro Satake, Nelson-Hirokazu Tsuno, Kazumi Isa, Kenichi Ogasawara, Makoto Uchikawa, Yumi Suzuki, Ryuichi Yabe, Yuika Kikuchi |
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| Rok vydání: | 2018 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities Erythrocytes Blood Donors 030204 cardiovascular system & hematology medicine.disease_cause 03 medical and health sciences Exon symbols.namesake 0302 clinical medicine Gene Frequency Antigen medicine Humans Glycophorins Sanger sequencing Mutation biology GYPB Hematology General Medicine Molecular biology Polyclonal antibodies Blood Group Antigens biology.protein symbols Antibody 030215 immunology |
| Zdroj: | Vox Sanguinis. 114:171-173 |
| ISSN: | 0042-9007 |
| DOI: | 10.1111/vox.12737 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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