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- Title
SI37 Two Novel D Genes of the Rh Blood Group System Producing D Variant Phenotypes.
- Authors
Etheridge, W.; Tilley, L.; Poole, J.; Daniels, G.
- Abstract
Introduction The D antigen is the most clinically significant of the Rh blood group system. Many variants of D exist, which are often classified as weak or partial D. D variants usually result either from nucleotide changes encoding amino acid substitutions or from the replacement of sections of RHD by the equivalent region of RHCE. Amino acid substitutions within the cytoplasmic or transmembrane domains of the RhD protein often produce weak D phenotypes with quantitative changes to D antigen expression, whereas substitutions in the extracellular loops of the RhD protein often result in qualitative changes associated with partial D phenotypes. This dichotomy, however, is not definitive. Samples and Methods Molecular analysis was performed on 14 samples referred for investigation of RhD status. Genomic DNA was extracted from whole blood. Exons 1–10 of RHD were sequenced for all samples and compared to reference sequences. Serological data were obtained where possible. Results Nucleotide mutations were found in all samples. Most could be assigned to known D variant types, but two novel mutations were detected. In four out of five samples identified as a possible DOL D variant by serological testing, an extra mutation was found. DOL variants have T>C509 in exon 4 (M170T) and T>G667 in exon 5 (F223V). In addition a C>G1132 mutation in exon 8, encoding L378V in the twelfth transmembrane domain, was present. This variant of DOL has subsequently been reported as DOL-2 ( ). The second novel mutation, A>G485 in exon 3 encoding N162S, was found in one person with alloanti-D. The substitution is predicted to be in extracellular loop three of the RhD protein. Conclusions Two novel D variants were identified. One resembles DOL and is called DOL-2. The other, which we propose to name DNS, was found in a person with anti-D.
- Subjects
BLOOD
- Publication
Transfusion Medicine, 2006, Vol 16, p21
- ISSN
0958-7578
- Publication type
Abstract
- DOI
10.1111/j.1365-3148.2006.00693_49.x