title: Molecular background of novel silent RHCE alleles.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Bach-Nga
authors.initials: BN
authors.lastname: Pham
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Ramelet
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Wibaut
authors.forename: Genevieve
authors.initials: G
authors.lastname: Juszczak
authors.forename: Chawki
authors.initials: C
authors.lastname: Loukil
authors.forename: Isabelle
authors.initials: I
authors.lastname: Dubeaux
authors.forename: Dominique
authors.initials: D
authors.lastname: Gien
authors.forename: Sandrine
authors.initials: S
authors.lastname: Kappler-Gratias
authors.forename: Philippe
authors.initials: P
authors.lastname: Rouger
authors.forename: Pierre-Yves
authors.initials: PY
authors.lastname: Le Pennec
mesh_terms: D000328:Adult; D000483:Alleles; D002675:Child, Preschool; D005190:Family; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D020868:Gene Silencing; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D010375:Pedigree; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D055815:Young Adult
chemical_list: C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System