(C)ce(s) haplotype screening in Tunisian blood donors.

Autor: Moussa H; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Ghommen N; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Romdhane H; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Abdelkefi S; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Chakroun T; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Houissa B; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia., Jemni SY; Unité de recherche UR06/SP05, Sousse Regional Blood Transfusion Centre, Sousse, Tunisia.
Jazyk: angličtina
Zdroj: Blood transfusion = Trasfusione del sangue [Blood Transfus] 2014 Jul; Vol. 12 (3), pp. 405-9. Date of Electronic Publication: 2013 Dec 04.
DOI: 10.2450/2013.0153-13
Abstrakt: 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.
Material and 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.
Discussion: 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.
Databáze: MEDLINE