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Transfusion. 2004 Jul;44(7):1047-51.

A new hybrid RHCE gene (CeNR) is responsible for expression of a novel antigen.

Author information

1
Department of Pathology and Laboratory Medicine, University of Pennsylvania and the American Red Cross, Philadelphia, Pennsylvania, USA. westhoff@mail.upenn.edu

Abstract

BACKGROUND:

The red blood cells (RBCs) of a patient, known to have the probable DC(W)(e)/D-- phenotype, typed as D(W)- and Rh32- but were unexpectedly agglutinated by an anti-D(W)/Rh32 serum. The reactivity suggested that the RBCs carried a novel antigen and that the molecular background of this DC(W)(e)/D-- phenotype might be different from those reported. The purpose of this study was to determine the molecular basis of the Rh phenotype.

STUDY DESIGN AND METHODS:

Samples were obtained for family studies. Standard hemagglutination methods were used. RH mRNA transcripts were isolated by reverse transcription-polymerase chain reaction and sequenced.

RESULTS:

Sequence analysis revealed that the probond had three different RH transcripts: a normal RHD and two different hybrid transcripts from the RHCE locus, a RHCE-D hybrid with exon 1 from RHCE associated with the D-- haplotype, and a new RHCE-D hybrid. In this new hybrid, exons 1 to 5 are RHCe-specific and exons 6 to 10 correspond to RHD. The C(W) antigen is also encoded by this hybrid gene. Family studies confirmed that the new RHCE-D hybrid is linked in cis to conventional RHD.

CONCLUSION:

A new RHCE-D structure is associated with altered expression of C and e antigens in this family and the generation of a novel low-prevalence antigen (CENR).

[Indexed for MEDLINE]

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