The Rhesus Site

Wagner, Franz F.; Flegel, Willy A.

doi:10.1159/000366176

Cited by 75 publications

(103 citation statements)

References 19 publications

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“…It should be emphasised that most results shown here as “weak D type 11” from both institutes (with the possible exception of CcEe sample from BTIS), could probably be designated as RHD(M295I) , which has a borderline D weak/DEL phenotype, and is typically detected in the CDe haplotype [37]. As typing software cannot separate haplotypes, its designation “weak D type 11” was merely a confirmation of the 885G>T mutation.…”

Section: Discussionmentioning

confidence: 90%

Implementation of Molecular RHD Typing at Two Blood Transfusion Institutes from Southeastern Europe

Guzijan¹,

Srzentic²,

Jankovic³

et al. 2019

Transfus Med Hemother

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Introduction: Determination of RhD variants in blood donors, pregnant women, and newborns is important for transfusion strategies, in order to prevent RhD alloimmunisation and hemolytic disease of fetuses and newborns. Implementation of molecular RHD typing in two transfusion institutes is presented in this article, from Banja Luka (Bosnia and Herzegovina) and Belgrade (Serbia). Study Design and Methods: Blood donors’ RhD was checked by direct agglutination assays (tube) and indirect antiglobulin test (gel). Molecular RHD typing was performed by PCR-SSP with fluorometric signal detection in both centres. Donors were selected by weak RhD serological reactivity (Banja Luka, 85 samples; Belgrade, 62 samples) or serologically RhD-negative C/E-positive results (Banja Luka, 92 samples; Belgrade, 61 samples). Results: Among serologically determined weak D donors from the institute from Banja Luka, weak D type 3 was the most frequent (58.8%), followed by type 1 (35.3%) and DNB (1.2%), whereas results obtained at the Belgrade institute were distributed between weak D type 1 (41.9%), type 3 (30.7%), type 14 (6.5%), type 15 (1.6%), and DNB with anti-D (1.6%). In 17.7% of serologically typed weak D samples from the Belgrade institute, the molecular typing result was standard D. Additionally, RHD presence was detected in 9.8% of serologically RhD-negative, C/E-positive samples from both institutes. Conclusion: Rh molecular testing was successfully implemented in both blood transfusion institutes in Banja Luka and Belgrade. This study proved the efficiency of serological algorithms for weak D, as well as the presence of the RHD gene among serologically tested RhD-negative, C/E-positive samples.

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Section: Discussionmentioning

confidence: 90%

Implementation of Molecular RHD Typing at Two Blood Transfusion Institutes from Southeastern Europe

Guzijan¹,

Srzentic²,

Jankovic³

et al. 2019

Transfus Med Hemother

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“…An up‐to‐date review of the literature and the RhesusBase was performed . On the basis of their position relative to the constitutive SSs, 15 variations of the RHD gene, including eight exonic (i.e., first, antepenultimate and penultimate position of exons) and seven intronic variants were selected for functional analysis (Table ).…”

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

“…To date, more than 300 variant alleles have been reported in RHD , the gene encoding the immunogenic D antigen of the most complex and polymorphic Rh blood group system. Those variant alleles involve several different mutational mechanisms, ranging from single nucleotide polymorphisms, short/large insertions/deletions, and gene rearrangements, up to whole gene deletion . As a result, expression of the D antigen at the surface of red blood cells (RBCs) is altered at the quantitative and/or qualitative level(s) with potential clinical outcomes that are well known to be critical for both transfusion and pregnancy management.…”

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confidence: 99%

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Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Raud

Gourlaouen

et al. 2019

Transfusion

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BACKGROUND We previously showed that several variations in the RHD gene, including synonymous changes, can be classified as splice site variants and may play a direct role in D variant phenotype expression. We sought to extend our study to additional candidates, notably in the first and last exons of the gene, by engineering a novel universal splice reporting vector, i.e., minigene. STUDY DESIGN AND METHODS Our previous plasmid construct was modified to allow subcloning of any exon(s) of interest for assessing effect of variations on splicing. Seventeen novel and/or uncharacterized variations of the RHD gene were selected for the study and tested in our novel model. RESULTS We engineered and validated a novel universal minigene for assessing virtually any variations of interest for splicing defect. Of the 17 variants tested in the novel model, 11 were shown to alter splicing either totally or partially, including the silent c.1065C>T variation, which induces major skipping of exon 7, and may therefore be responsible for reducing D antigen expression. We also showed that while all three missense variations c.1154G>C, c.1154G>T, and c.1154G>A in exon 9 are splice site variants, splicing is differentially altered and D‐negative phenotype observed in the presence of the latter substitution is likely due to a defect in RhD protein folding. CONCLUSION Overall, we hypothesize that splicing alteration is likely to be a common mechanism of D phenotype variation that has been underestimated so far. Further large‐scale studies are necessary to demonstrate this statement definitely.

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“…Instructions how to submit data to the database as well as how to search for suitable donor population for organ donation in case of highly sensitized patient are given. ‘The Rhesus Site' by Wagner and Flegel [11] introduces into the most complex human blood group system. Besides access to the ever growing list of newly discovered Rhesus alleles, it also contains a section providing information on the immunogenic potential of various Rhesus D alleles.…”

mentioning

confidence: 99%

Data Collection and Data Sharing - the Holy Gral of Transfusion Medicine and Modern Bioscience

Frey

Fischer

2014

Transfus Med Hemother

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The Rhesus Site

Cited by 75 publications

References 19 publications

Implementation of Molecular <b><i>RHD</i></b> Typing at Two Blood Transfusion Institutes from Southeastern Europe

Implementation of Molecular <b><i>RHD</i></b> Typing at Two Blood Transfusion Institutes from Southeastern Europe

Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype

Data Collection and Data Sharing - the Holy Gral of Transfusion Medicine and Modern Bioscience

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