A novel GYPB-A-B hybrid gene responsible for Ss and MN typing discrepancies.

Abstract:

BACKGROUND:Transfusion support of S-s- patients is very challenging but can now be alleviated by genotyping mutations in the GYPB gene to predict their U- or U+(var) phenotype. However, the phenotype predicted by genotyping does not always correspond to the observed phenotype of red blood cells (RBCs), which requires further investigation to avoid such a typing discrepancy in the future. In this study, we elucidated the case of an S-s- female patient of African origin who was predicted to be S+s- by our genotyping platform. STUDY DESIGN AND METHODS:Long-range polymerase chain reaction (PCR) amplification and extended Sanger sequencing were required. RESULTS:The Ss typing discrepancy in the proband resulted from a converted GYPB allele that encodes neither S nor s due to the replacement of Exon B4 of GYPB by the homologous Exon A4 of GYPA. In this novel GYPB-A-B hybrid gene, the GYPA segment actually starts just downstream of Exon B2, causing a MN typing discrepancy too. While the proband's RBCs were M+N-, the genotyping predicted the M+N+ phenotype. CONCLUSION:The reported GYPB-A-B hybrid gene constitutes a limitation for the accurate prediction of the MN and Ss phenotypes by current genotyping methods. A PCR assay was therefore developed to detect its presence.

journal_name

Transfusion

journal_title

Transfusion

authors

Willemetz A,Nataf J,Peyrard T,Arnaud L

doi

10.1111/trf.13216

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

2620-3

issue

11

eissn

0041-1132

issn

1537-2995

journal_volume

55

pub_type

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