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

Westhoff, Connie M; Storry, Jill LU ; Walker, Phyllis; Lomas-Francis, Christine and Reid, Marion E (2004) In Transfusion 44(7). p.1047-1051
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... (More)
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). (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Transfusion
volume
44
issue
7
pages
1047 - 1051
publisher
Wiley-Blackwell
external identifiers
  • pmid:15225246
  • scopus:3042594855
ISSN
1537-2995
DOI
10.1111/j.1537-2995.2004.04003.x
language
English
LU publication?
no
id
4a106499-d455-4a97-817c-54e14878d2d7 (old id 1129248)
date added to LUP
2008-06-19 08:57:02
date last changed
2017-01-01 06:39:31
@article{4a106499-d455-4a97-817c-54e14878d2d7,
  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).},
  author       = {Westhoff, Connie M and Storry, Jill and Walker, Phyllis and Lomas-Francis, Christine and Reid, Marion E},
  issn         = {1537-2995},
  language     = {eng},
  number       = {7},
  pages        = {1047--1051},
  publisher    = {Wiley-Blackwell},
  series       = {Transfusion},
  title        = {A new hybrid RHCE gene (CeNR) is responsible for expression of a novel antigen},
  url          = {http://dx.doi.org/10.1111/j.1537-2995.2004.04003.x},
  volume       = {44},
  year         = {2004},
}