Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA.

Details

Serval ID
serval:BIB_579FB61DFCAD
Type
Article: article from journal or magazin.
Collection
Publications
Title
Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA.
Journal
Transfusion
Author(s)
Lejon Crottet S., Haer-Wigman L., Gowland P., Fontana S., Niederhauser C., Hustinx H.
ISSN
1537-2995 (Electronic)
ISSN-L
0041-1132
Publication state
Published
Issued date
2013
Peer-reviewed
Oui
Volume
53
Number
11 Suppl 2
Pages
3000-3008
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
Abstract
BACKGROUND: The partial D variant DAR1 (weak D Type 4.2) is caused by three single-point mutations, 602C>G, 667T>G, and 1025T>C. Here we report a molecular study on different D variants belonging to the DAR category (DAR1, DAR1.2, DAR1.3, and DAR2) and their serologic data.
STUDY DESIGN AND METHODS: A total of 42 samples belonging to the DAR category were screened for the presence of the silent mutations 744C>T and 957G>A. The samples were phenotyped for RhD and RhCE, characterized for RhD epitope expression, and sequenced for RHD exons. Flow cytometry was performed to determine RhD antigen density.
RESULTS: The silent mutation 744C>T was found in all six samples previously typed as RHD*DAR2 (602C>G, 667T>G, 957G>A, 1025T>C). In addition to the three nucleotide changes originally reported for the RHD*DAR1 allele, the silent mutations 744C>T and 957G>A were found in 14 of 16 samples previously typed as RHD*DAR1. In the remaining two samples one additional silent mutation, 744C>T, was found. Serologically the DAR1.2 and DAR1.3 samples analyzed in this study showed no distinct difference in their anti-D reaction pattern compared to each other. The anti-D reaction pattern of DARA/DAR2 showed some distinct differences compared to those of DAR1.2 and DAR1.3.
CONCLUSION: RHD*DARA and RHD*DAR2 are the same allele. Furthermore, the alleles RHD*DAR1.2 and RHD*DAR1.3 both exist; however, the silent mutation 957G>A (V319) showed no influence on the RhD phenotype.
Keywords
Alleles, Amino Acid Substitution/genetics, Blood Grouping and Crossmatching/methods, Flow Cytometry, Humans, Isoantibodies/immunology, Phenotype, Polymorphism, Single Nucleotide, Rh-Hr Blood-Group System/classification, Rh-Hr Blood-Group System/genetics, Sequence Analysis, DNA, Serologic Tests
Pubmed
Web of science
Create date
09/11/2014 15:53
Last modification date
20/08/2019 14:11
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