title: Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
abstract: BACKGROUND
  Although systematic blood group genotyping of patients/donors is virtually possible, serological studies remain the gold standard to identify samples of clinical interest that may be further genotyped. In this context, we sought to identify variant D alleles that are likely to be clinically relevant in terms of other Rh antigens in a subset of population genotyped in Western France.
  
  
  METHODS
  Samples presenting with the RHD*weak D type 4.2.2 allele (n = 47) were selected for the study. RHCE exons 1-7 were directly sequenced, and expression of Rh antigens was predicted on the basis of the molecular data.
  
  
  RESULTS
  Of the 47 samples tested, 19 (40.4%) were predicted to be of potential clinical interest. Moreover, we could show that selecting the samples to be genotyped by the nature of their variant D allele (i.e., RHD*weak D type 4.2.2 allele) rather than by their Duffy-null status appears to increase significantly the likelihood of identifying clinically relevant individuals for Rh status.
  
  
  CONCLUSIONS
  On the basis of our findings we suggest that all individuals genotyped as weak D type 4.2.2 should be systematically screened for RHCE variants by molecular analysis on a routine basis.
authors.affiliation: French Blood Institute (EFS-Bretagne), Brest, France; National Institute of Health and Medical Research (Inserm, UMR1078), Brest, France.
authors.forename: Yann
authors.initials: Y
authors.lastname: Fichou
authors.affiliation: French Blood Institute (EFS-Bretagne), Brest, France; National Institute of Health and Medical Research (Inserm, UMR1078), Brest, France; Faculty of Medicine and Health Sciences, University of Western Brittany, Brest, France; Molecular Genetics and Histocompatibility Laboratory, Regional University Hospital (CHRU), Morvan Hospital, Brest, France.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Maréchal
authors.affiliation: French Blood Institute (EFS-Bretagne), Brest, France; National Institute of Health and Medical Research (Inserm, UMR1078), Brest, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Scotet
authors.affiliation: French Blood Institute (EFS-Bretagne), Brest, France.
authors.forename: Déborah
authors.initials: D
authors.lastname: Jamet
authors.affiliation: French Blood Institute (EFS-Bretagne), Brest, France; National Institute of Health and Medical Research (Inserm, UMR1078), Brest, France; Faculty of Medicine and Health Sciences, University of Western Brittany, Brest, France; Molecular Genetics and Histocompatibility Laboratory, Regional University Hospital (CHRU), Morvan Hospital, Brest, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Férec
keywords: Antigens; Blood group; Genotyping; RHCE; RHD; Variant alleles