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Molecular background of novel silent RHCE alleles

Authors

  • Bach-Nga Pham,

    Corresponding author
    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
    • Address reprint requests to: Bach-Nga Pham, Institut National de la Transfusion Sanguine, CNRGS–INSERM U665, 20 rue Bouvier, BP 79, 75522 Paris Cedex 11, France; e-mail: bnpham@ints.fr.

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  • Stéphanie Ramelet,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Bénédicte Wibaut,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Genevieve Juszczak,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Chawki Loukil,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Isabelle Dubeaux,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Dominique Gien,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Sandrine Kappler-Gratias,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Philippe Rouger,

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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  • Pierre-Yves Le Pennec

    1. CNRGS–INSERM U665, Institut National de la Transfusion Sanguine, Paris, France
    2. CHU Lille, Institut d'Hématologie Transfusion, Lille, France
    3. Etablissement Français du Sang, Centre Atlantique, France
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Abstract

Background

The absence of expression of C/c and E/e antigens has been associated with rare variant RHCE alleles, referred to as silent RHCE alleles, classically identified among individuals with a rare D– – or Rhnull phenotype. This work reports on different molecular mechanisms identified in three novel silent RHCE alleles.

Study Design and Methods

Samples from D– – or Rhnull individuals and their family members, from families for whom Rh phenotype and/or serologic data were unexplained by inheritance of conventional RH alleles, were analyzed. Genomic DNA and transcripts were tested by sequencing analysis.

Results

The first silent allele was a RHCE*cE allele carrying an intronic IVS3+5G>A mutation. The second was a RHCE*ce allele carrying an intronic IVS7-2A>G mutation, whereas the third was a silent RHCE*ce allele carrying a 5-bp deletion (Nucleotides 679-683) in Exon 5.

Conclusion

In addition to hybrid alleles and nucleotide deletion, intronic mutations may be associated with the nonexpression of RhCE antigens. Regarding the RH system, silent alleles may not be investigated among D– – or Rhnull individuals only. Rh phenotype and/or serologic data unexplained by inheritance of conventional RH alleles should lead to molecular investigations.

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