title: (C)ce(s) haplotype screening in Tunisian blood donors.
abstract: BACKGROUND
  The (C)ce(s) haplotype, mainly found in black individuals, contains two altered genes: a hybrid RHD-CE-D(s) gene segregated with a ce(s) allele of RHCE with two single nucleotide polymorphisms, c. 733C>G (p.Leu245Val) in exon 5 and c. 1006G>T (Gly336Cys) in exon 7. This haplotype could be responsible for false positive genotyping results in RhD-negative individuals and at a homozygous level lead to the loss of a high incidence antigen RH34. The aim of this study was to screen for the (C)ce(s) haplotype in Tunisian blood donors, given its clinico-biological importance.
  
  
  METHODS
  Blood samples were randomly collected from blood donors in the blood transfusion centre of Sousse (Tunisia). A total of 356 RhD-positive and 44 RhD-negative samples were tested for the (C)ce(s) haplotype using two allele-specific primer polymerase chain reactions that detect c. 733C>G (p.Leu245Val) and c. 1006G>T (p. Gly336Cys) substitutions in exon 5 and 7 of the RHCE gene. In addition, the presence of the D-CE hybrid exon 3 was evaluated using a sequence-specific primer polymerase chain reaction.
  
  
  RESULTS
  Among the 400 individuals only five exhibited the (C)ce(s) haplotype in heterozygosity, for a frequency of 0.625%. On the basis of the allele-specific primer polymerase chain reaction results, the difference in (C)ce(s) haplotype frequency was not statistically significant between RhD-positive and RhD-negative blood donors.
  
  
  CONCLUSIONS
  These data showed the presence of the (C)ce(s) haplotype at a low frequency (0.625%) compared to that among Africans in whom it is common. Nevertheless, the presence of RHD-CE-D(s) in Tunisians, even at a lower frequency, should be considered in the development of a molecular genotyping strategy for Rh genes, to ensure better management of the prevention of alloimmunisation.
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Hajer
authors: H
authors: Moussa
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Néjiba
authors: N
authors: Ghommen
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Houda
authors: H
authors: Romdhane
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Saadia
authors: S
authors: Abdelkefi
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Taher
authors: T
authors: Chakroun
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Batoul
authors: B
authors: Houissa
authors: Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
authors: Saloua Yacoub
authors: SY
authors: Jemni
mesh_terms: D001782:Blood Donors; D005091:Exons; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D014416:Tunisia
chemical_list: C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System