A novel c.166A>T (p.Thr56Ser) mutation in GYPB*S accounting for unusual S antigen expression.
Vox Sang
; 114(2): 171-173, 2019 Feb.
Article
em En
| MEDLINE
| ID: mdl-30523644
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.
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Base de dados:
MEDLINE
Assunto principal:
Antígenos de Grupos Sanguíneos
/
Glicoforinas
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Mutação
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article