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<title lang=en>RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents.</title>
<creator>Silvy, Monique</creator>
<creator>Barrault, Aurélie</creator>
<creator>Velliquette, Randall W</creator>
<creator>Lomas-Francis, Christine</creator>
<creator>Simon, Sophie</creator>
<creator>Mortelecque, Rosanna</creator>
<creator>Chiaroni, Jacques</creator>
<creator>Bierling, Philippe</creator>
<creator>Noizat-Pirenne, France</creator>
<creator>Bailly, Pascal</creator>
<creator>Tournamille, Christophe</creator>
<contributor>UMR 6578 : Adaptabilité Biologique et Culturelle (UAABC) ; Université de la Méditerranée - Aix-Marseille 2 - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>Etablissement Français du Sang - Alpes-Méditerranée (EFS - Alpes-Méditerranée) ; Etablissement Français du Sang</contributor>
<contributor>Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES) ; Aix Marseille Université (AMU) - EFS ALPES MEDITERRANEE - Centre National de la Recherche Scientifique (CNRS)</contributor>
<contributor>etablissement francais du sang ; Hôpital Henri Mondor</contributor>
<contributor>Institut Mondor de Recherche Biomédicale (IMRB) ; Institut National de la Santé et de la Recherche Médicale (INSERM) - IFR10 - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)</contributor>
<contributor>CIC - Biotherapie - CHU Henri Mondor ; Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Henri Mondor - Institut National de la Santé et de la Recherche Médicale (INSERM) - Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)</contributor>
<contributor>Protéines de la membrane érythrocytaire et homologues non-érythroides ; Université des Antilles et de la Guyane (UAG) - Institut National de la Transfusion Sanguine [Paris] (INTS) - Université Paris Diderot - Paris 7 (UPD7) - Université de la Réunion (UR) - Institut National de la Santé et de la Recherche Médicale (INSERM)</contributor>
<description>International audience</description>
<source>ISSN: 0041-1132</source>
<source>EISSN: 1537-2995</source>
<source>Transfusion</source>
<publisher>Wiley</publisher>
<identifier>hal-00839022</identifier>
<identifier>https://hal.archives-ouvertes.fr/hal-00839022</identifier>
<source>https://hal.archives-ouvertes.fr/hal-00839022</source>
<source>Transfusion, Wiley, 2013, 53 (5), pp.955-61. 〈10.1111/j.1537-2995.2012.03860.x〉</source>
<identifier>DOI : 10.1111/j.1537-2995.2012.03860.x</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1537-2995.2012.03860.x</relation>
<identifier>PUBMED : 22958092</identifier>
<relation>info:eu-repo/semantics/altIdentifier/pmid/22958092</relation>
<language>en</language>
<subject>[SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>BACKGROUND: The RH blood group system has many RHCE variant alleles that have arisen through gene conversion or nucleotide changes. Two probands, with red blood cells (RBCs) that were D+C+E-c+(w) e+ were sent to our laboratories to resolve the weak c expression. STUDY DESIGN AND METHODS: Hemagglutination tests were performed by automated and manual procedures. Genomic DNA analysis was performed by sequencing of Exons 1 to 10 of RHCE and RHD. RESULTS: The probands' RBCs did not react with standard monoclonal anti-E reagents from Bio-Rad, Diagast, DiaMed, Immucor, Ortho, and Quotient. The RBCs reacted variably with anti-c reagents from Diagast, DiaMed, Immucor, or Ortho and did not react with the Quotient anti-c reagent. Surprisingly, sequencing results of RHCE showed the presence of C/G at Position 676 (E/e polymorphism) and the association of the E polymorphism with a 734T>C transition in Exon 5 of the RHCE, encoding a Leu245Pro amino acid substitution in the mature RhcE polypeptide. Replacement of leucine 245 by proline in the eighth transmembrane domain of the RhcE protein may have a steric effect on the protein such that most anti-E reagents do not bind and the interaction between anti-c and c antigen is also affected. CONCLUSION: We report a novel RHCE*cE allele, RHCE*cE734C, which was assigned the provisional ISBT allele name RHCE*cE.14 or RHCE*03.14. It was found in two probands whose RBCs had weakened c expression and typed E- with conventional anti-E reagents. These data, once again, highlight the fact that the genotype does not always reflect the phenotype.</description>
<date>2013-05</date>
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