RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents.
Monique Silvy
(1)
,
Aurélie Barrault
,
Randall W Velliquette
,
Christine Lomas-Francis
,
Sophie Simon
(2)
,
Rosanna Mortelecque
,
Jacques Chiaroni
(3)
,
Philippe Bierling
(4)
,
France Noizat-Pirenne
(5, 6)
,
Pascal Bailly
(1)
,
Christophe Tournamille
(7)
1
UAABC -
Anthropologie Bio-Culturelle
2 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
3 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
4 etablissement francais du sang
5 IMRB - Institut Mondor de Recherche Biomédicale
6 CIC - Biotherapie - CHU Henri Mondor
7 Protéines de la membrane érythrocytaire et homologues non-érythroides
2 EFS - Alpes-Méditerranée - Etablissement Français du Sang - Alpes-Méditerranée
3 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
4 etablissement francais du sang
5 IMRB - Institut Mondor de Recherche Biomédicale
6 CIC - Biotherapie - CHU Henri Mondor
7 Protéines de la membrane érythrocytaire et homologues non-érythroides
Aurélie Barrault
- Fonction : Auteur
Randall W Velliquette
- Fonction : Auteur
Christine Lomas-Francis
- Fonction : Auteur
Rosanna Mortelecque
- Fonction : Auteur
Jacques Chiaroni
- Fonction : Auteur
- PersonId : 748906
- IdHAL : jacques-chiaroni
- ORCID : 0000-0002-3133-8990
Résumé
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.
Domaines
HématologieFormat du dépôt | Notice |
---|---|
Type de dépôt | Article dans une revue |
Titre |
en
RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents.
|
Résumé |
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.
|
Auteur(s) |
Monique Silvy
1
, Aurélie Barrault
, Randall W Velliquette
, Christine Lomas-Francis
, Sophie Simon
2
, Rosanna Mortelecque
, Jacques Chiaroni
3
, Philippe Bierling
4
, France Noizat-Pirenne
5, 6
, Pascal Bailly
1
, Christophe Tournamille
7
1
UAABC -
Anthropologie Bio-Culturelle
( 942 )
- Faculté de Médecine - Secteur Nord Batiment A - CS80011 Bd Pierre Dramard 13344 MARSEILLE Cedex 15 FRANCE
- France
2
EFS - Alpes-Méditerranée -
Etablissement Français du Sang - Alpes-Méditerranée
( 121596 )
- 149 bd Baille 13385, Marseille
- France
3
ADES -
Anthropologie bio-culturelle, Droit, Ethique et Santé
( 186857 )
- Faculté de Médecine Secteur Nord 51, Boulevard Pierre Dramard 13344 MARSEILLE CEDEX 15
- France
4
etablissement francais du sang
( 212055 )
- France
5
IMRB -
Institut Mondor de Recherche Biomédicale
( 266797 )
- 8 rue du Général Sarrail 94010 Créteil
- France
6
CIC - Biotherapie - CHU Henri Mondor
( 2592 )
- 51, Avenue du Maréchal de Lattre de Tassigny 94010 Créteil cedex
- France
7
Protéines de la membrane érythrocytaire et homologues non-érythroides
( 3023 )
- INTS 6, Rue Alexandre Cabanel 75739 PARIS CEDEX 15
- France
|
Comité de lecture |
Oui
|
Vulgarisation |
Non
|
Langue du document |
Anglais
|
Nom de la revue |
|
Audience |
Internationale
|
Date de publication |
2013-05
|
Date de publication électronique |
2012-09-07
|
Volume |
53
|
Numéro |
5
|
Page/Identifiant |
955-61
|
Domaine(s) |
|
DOI | 10.1111/j.1537-2995.2012.03860.x |
Pubmed Id | 22958092 |
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