In:
Transfusion, Wiley, Vol. 53, No. 11pt2 ( 2013-11), p. 2990-2999
Abstract:
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 Rh null phenotype. This work reports on different molecular mechanisms identified in three novel silent RHCE alleles. Study Design and Methods Samples from D – – or Rh null 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 +5 G 〉 A mutation. The second was a RHCE*ce allele carrying an intronic IVS 7‐2 A 〉 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 Rh null individuals only. Rh phenotype and/or serologic data unexplained by inheritance of conventional RH alleles should lead to molecular investigations.
Type of Medium:
Online Resource
ISSN:
0041-1132
,
1537-2995
DOI:
10.1111/trf.2013.53.issue-11pt2
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2018415-3
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