A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped‐strand mispairing and blood group polymorphisms

A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped‐strand mispairing and blood... ABBREVIATIONSSSMslipped‐strand mispairingSTRshort tandem repeatThe RhD blood group antigen is clinically significant and extremely polymorphic. The DEL phenotype represents one such class of polymorphisms characterized by a quantitative reduction in RhD antigen sites on red blood cells (RBCs). Such RBCs phenotype as D– by standard serology and RhD antigen is detected only after adsorbing and eluting anti‐D from these RBCs. More than 40 RHD gene variants associate with the DEL phenotype, the most prevalent being the Asia‐type DEL. Such RBCs have been associated with primary and secondary immunization in D– individuals.The Asia‐type DEL arises from a single nucleotide change at the RHD gene Exon 9–Intron 9 splice‐site boundary, defined as RHD*1227A. However, the genetic basis for a DEL phenotype among Taiwanese D– donors was initially attributed to RHD Exon 9 deletion. These studies, based on genomic DNA analysis, were never confirmed nor encountered by any other independent group. Here, we report a Caucasian donor with a DEL phenotype and show that RHD Exon 9 and flanking sequences were deleted between two intronic repeat sequences. We propose a slipped‐strand mispairing (SSM) genetic mechanism was responsible for this germline mutation and discuss the contribution of such a mechanism to RBC RhD antigen http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Transfusion Wiley

A DEL phenotype attributed to RHD Exon 9 sequence deletion: slipped‐strand mispairing and blood group polymorphisms

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 AABB
ISSN
0041-1132
eISSN
1537-2995
D.O.I.
10.1111/trf.14439
Publisher site
See Article on Publisher Site

Abstract

ABBREVIATIONSSSMslipped‐strand mispairingSTRshort tandem repeatThe RhD blood group antigen is clinically significant and extremely polymorphic. The DEL phenotype represents one such class of polymorphisms characterized by a quantitative reduction in RhD antigen sites on red blood cells (RBCs). Such RBCs phenotype as D– by standard serology and RhD antigen is detected only after adsorbing and eluting anti‐D from these RBCs. More than 40 RHD gene variants associate with the DEL phenotype, the most prevalent being the Asia‐type DEL. Such RBCs have been associated with primary and secondary immunization in D– individuals.The Asia‐type DEL arises from a single nucleotide change at the RHD gene Exon 9–Intron 9 splice‐site boundary, defined as RHD*1227A. However, the genetic basis for a DEL phenotype among Taiwanese D– donors was initially attributed to RHD Exon 9 deletion. These studies, based on genomic DNA analysis, were never confirmed nor encountered by any other independent group. Here, we report a Caucasian donor with a DEL phenotype and show that RHD Exon 9 and flanking sequences were deleted between two intronic repeat sequences. We propose a slipped‐strand mispairing (SSM) genetic mechanism was responsible for this germline mutation and discuss the contribution of such a mechanism to RBC RhD antigen

Journal

TransfusionWiley

Published: Jan 1, 2018

References

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