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http://purl.uniprot.org/citations/12084172http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12084172http://www.w3.org/2000/01/rdf-schema#comment"

Background

D(C)(e) and D(C)e haplotypes may be encountered in the white population. Few data are available on the molecular backgrounds responsible for depressed expression of C and e.

Study design and methods

Individuals of white origin carrying a D(C)(e) genotype resulting in depressed expression of C or both C and e were subdivided into two categories based on the RBC reactivity with the human sera Mol and Hor, which contain antibodies against low-frequency antigens of the Rh (RH) system and other non-Rh low-frequency antigens. Neither Hor+, Mol+ nor Hor+, Mol-RBCs expressed the V (RH10), VS (RH20), and/or Rh32 (RH32) low-frequency antigens. These results suggested that Hor+, Mol+ variants expressed Rh33 (RH33 or Har) and FPTT (RH50), whereas Hor+, Mol-variants might express an undefined low-frequency antigen. Further serologic and molecular analyses were performed.

Results

Molecular analysis of Hor+, Mol+ variants revealed a hybrid gene structure RHCe-D(5)-Ce, in which exon 5 of RHCE (RHCe allele) was replaced by exon 5 of RHD (the so-called RHCeVA allele). The presence of exon 5RHD resulted in several amino acid alterations predicted in the external loop 4 of the CeVA polypeptide. Molecular analysis of Hor+, Mol-variants revealed the presence of a new RHCe allele characterized by a single point mutation C340T within exon 3 (the so-called RHCeMA allele), resulting in a R114W substitution predicted on the external loop 2 of the CeMA polypeptide. A serologic study showed a different pattern of reactivity with C and e MoAbs.

Conclusion

Two types of mutations resulted in amino acid substitutions predicted in external loops 4 and 2, respectively, which altered both the C and e reactivity, and indicated conformation changes or defective interaction between nonadjacent loops of the Ce polypeptide. Serologic analysis showed that together with Hor and Mol sera testing, the use of different C and e MoAbs could help to identify these variants within the white population."xsd:string
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http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Cartron J.P."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Le Pennec P.Y."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Krause C."xsd:string
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http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Juszczak G."xsd:string
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http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Roussel M."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Rouzaud A.M."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/author"Lauroua P."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/date"2002"xsd:gYear
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/name"Transfusion"xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/pages"627-633"xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/title"Molecular background of D(C)(e) haplotypes within the white population."xsd:string
http://purl.uniprot.org/citations/12084172http://purl.uniprot.org/core/volume"42"xsd:string
http://purl.uniprot.org/citations/12084172http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/12084172
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