title: [System RH: screening of partials D with RHD/RHCE hybrid gene].
abstract: OBJECTIVE
  The determination of the RhD phenotype is important in transfusion medicine. However, the complexity of the expression of the D antigen is the cause of the discrepancies observed between two serological determinations and the omission by serology of some variants that can be cause alloimmunization. Therefore, it is important to known in a population the RHD alleles responsible for partial D and weak D phenotype. The aim of the study was the screening of partial D with RHD/RHCE gene hybrid by PCR-multiplex.
  
  
  METHODS
  Our study involved 308 blood donors from Tunisian Sahel (269 D positive and 39 D negative). We used the multiplex PCR assay to amplify specific exons of the RHD gene 3, 4, 5, 6, 7, 9 and 10. Further molecular investigations were carried to characterize the RHD variants that were detected by the multiplex.
  
  
  RESULTS
  In the 269 D positive samples, one case showed the absence of amplification of exons 4 and 5 of RHD gene. This variant was identified by PCR-SSP on weak D type 4. None of the RHD exons were amplified from DNA of 39 D negative samples in favor of a total deletion of the RHD gene.
  
  
  CONCLUSIONS
  We have no found any partial D variant with RHD/RHCE gene hybrid. Results in D negative samples showed that RHD gene deletion is the most frequent mechanism of D negative phenotype in the Tunisian population.
authors.affiliation: Unité de recherche, UR06SP05, centre régional de transfusion sanguine, Sousse, Tunisie.
authors.forename: M
authors.initials: M
authors.lastname: Ouchari
authors.forename: S
authors.initials: S
authors.lastname: Jemni Yacoub
authors.forename: B
authors.initials: B
authors.lastname: Houissa
authors.forename: S
authors.initials: S
authors.lastname: Abdelkefi
authors.forename: T
authors.initials: T
authors.lastname: Chakroun
authors.forename: M
authors.initials: M
authors.lastname: Bouslama
authors.forename: I
authors.initials: I
authors.lastname: Jerray
authors.forename: S
authors.initials: S
authors.lastname: Belhedi
authors.forename: S
authors.initials: S
authors.lastname: Hmida
mesh_terms: D001782:Blood Donors; D005091:Exons; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D009154:Mutation; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D014416:Tunisia
chemical_list: C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen