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Molecular background of novel silent RHCE alleles
Author(s) -
Pham BachNga,
Ramelet Stéphanie,
Wibaut Bénédicte,
Juszczak Genevieve,
Loukil Chawki,
Dubeaux Isabelle,
Gien Dominique,
KapplerGratias Sandrine,
Rouger Philippe,
Le Pennec PierreYves
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12023
Subject(s) - allele , genetics , biology , null allele , phenotype , genotype , genomic dna , microbiology and biotechnology , gene
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 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.