PMID: 9163603May 1, 1997Paper

Molecular basis of the D variant phenotypes DNU and DII allows localization of critical amino acids required for expression of Rh D epitopes epD3, 4 and 9 to the sixth external domain of the Rh D protein

British Journal of Haematology
N D AventC Green

Abstract

The discovery of Rh partial D variant red cells by discrepant reactions with different monoclonal anti-D has demonstrated the range of Rh D epitopes that have arisen due to alterations in Rh D protein structure. There are two current classification systems, one which uses a nine epitope model (epD1-epD9) whereas a more recent model proposes 30 different epitopes. We describe here the molecular basis of two D variants which lack epD4 and epD9 namely the DNU and D(II) phenotypes. These would have both been originally classified as D(II) phenotype individuals, but we have revealed subtle differences in the serological profile of these erythrocytes. Such a differential reactivity and determination of the molecular bases of these phenotypes allows us to predict critical amino acids for epD3, epD4 and epD9 expression. The DNU phenotype arises from a single point mutation in the RHD gene resulting in a single amino acid change (Gly353Arg). Sequence analysis of exon 7 of the RHD gene derived from the D(II) propositus indicates that there is a single point mutation in this exon resulting in a single amino acid change (Ala354Asp). It is likely that this point mutation gives rise to the D(II) phenotype. Both mutations result in the change...Continue Reading

Citations

Aug 26, 2003·Legal Medicine·Hiroshi Okuda, Eiji Kajii
Jan 9, 1999·Transfusion Medicine·W A FlegelC Gassner
Aug 15, 1998·Vox Sanguinis·N D Avent
Nov 12, 2005·British Journal of Haematology·Matthew J ConroyNeil D Avent
Mar 27, 2004·Transfusion·Günther F KörmöcziChristoph Gassner
Aug 30, 2002·Blood·Franz F WagnerWilly A Flegel
Sep 21, 2001·Journal of Pediatric Hematology/oncology·N D Avent
May 3, 2000·Seminars in Hematology·C H HuangJ G Cheng

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