In-frame triplet deletions in RHD alter the D antigen phenotype

Flegel, Willy A; Eicher, Nicole I; Doescher, Andrea; Hustinx, Hein; Gowland, Peter; Mansouri Taleghani, Behrouz; Petershofen, Eduard K; Bauerfeind, Ursula; Ernst, Manfred; von Zabern, Ingeborg; Schrezenmeier, Hubert; Wagner, Franz F (2006). In-frame triplet deletions in RHD alter the D antigen phenotype. Transfusion, 46(12), pp. 2156-61. Malden, Mass.: Wiley-Blackwell 10.1111/j.1537-2995.2006.01046.x

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BACKGROUND: The deletion of three adjacent nucleotides in an exon may cause the lack of a single amino acid, while the protein sequence remains otherwise unchanged. Only one such in-frame deletion is known in the two RH genes, represented by the RHCE allele ceBP expressing a "very weak e antigen." STUDY DESIGN AND METHODS: Blood donor samples were recognized because of discrepant results of D phenotyping. Six samples came from Switzerland and one from Northern Germany. The molecular structures were determined by genomic DNA nucleotide sequencing of RHD. RESULTS: Two different variant D antigens were explained by RHD alleles harboring one in-frame triplet deletion each. Both single-amino-acid deletions led to partial D phenotypes with weak D antigen expression. Because of their D category V-like phenotypes, the RHD(Arg229del) allele was dubbed DVL-1 and the RHD(Lys235del) allele DVL-2. These in-frame triplet deletions are located in GAGAA or GAAGA repeats of the RHD exon 5. CONCLUSION: Partial D may be caused by a single-amino-acid deletion in RhD. The altered RhD protein segments in DVL types are adjacent to the extracellular loop 4, which constitutes one of the most immunogenic parts of the D antigen. These RhD protein segments are also altered in all DV, which may explain the similarity in phenotype. At the nucleotide level, the triplet deletions may have resulted from replication slippage. A total of nine amino acid positions in an Rhesus protein may be affected by this mechanism.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Mansouri Taleghani, Behrouz










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Date Deposited:

04 Oct 2013 14:50

Last Modified:

17 Mar 2015 21:53

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URI: (FactScience: 5162)

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