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Transfusion. 2013 Nov;53(11 Suppl 2):2990-9. doi: 10.1111/trf.12023. Epub 2012 Dec 17.

Molecular background of novel silent RHCE alleles.

Author information

1
CNRGS-INSERM U665, Institut National de la Transfusion Sanguine, Paris, France; CHU Lille, Institut d'Hématologie Transfusion, Lille, France; Etablissement Français du Sang, Centre Atlantique, France.

Abstract

BACKGROUND:

The absence of expression of C/c and E/e antigens has been associated with rare variant RHCE alleles, referred to as silent RHCE alleles, classically identified among individuals with a rare D- - or Rhnull phenotype. This work reports on different molecular mechanisms identified in three novel silent RHCE alleles.

STUDY DESIGN AND METHODS:

Samples from D- - or Rhnull individuals and their family members, from families for whom Rh phenotype and/or serologic data were unexplained by inheritance of conventional RH alleles, were analyzed. Genomic DNA and transcripts were tested by sequencing analysis.

RESULTS:

The first silent allele was a RHCE*cE allele carrying an intronic IVS3+5G>A mutation. The second was a RHCE*ce allele carrying an intronic IVS7-2A>G mutation, whereas the third was a silent RHCE*ce allele carrying a 5-bp deletion (Nucleotides 679-683) in Exon 5.

CONCLUSION:

In addition to hybrid alleles and nucleotide deletion, intronic mutations may be associated with the nonexpression of RhCE antigens. Regarding the RH system, silent alleles may not be investigated among D- - or Rhnull individuals only. Rh phenotype and/or serologic data unexplained by inheritance of conventional RH alleles should lead to molecular investigations.

PMID:
23252593
DOI:
10.1111/trf.12023
[Indexed for MEDLINE]

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