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Type: Artigo de periódico
Title: Molecular Characterization Of The Variants Of The Rh Blood Group System In Sickle Cell Disease Patients [caracterização Molecular Das Variantes Do Sistema Rh Em Pacientes Portadores De Anemia Falciforme]
Author: Rodrigues A.
De Castilho L.M.
Abstract: The Rh blood group system is one of the most polymorphic and immunogenic systems known in humans. In the past decade, intense investigation has yielded considerable knowledge of the molecular background of this system. The genes encoding 2 distinct Rh proteins that carry C or c together with either E or e antigens, and the D antigen, have been cloned, and the molecular bases of many of the antigens and of the phenotypes have been determined. Gene rearrangements, deletions, or point mutations may cause partial D and CE antigens. The purpose of this study was to investigate the presence of the RHD pseudogeneor RHDψ, the hybrid RHD-CE-D S, partial D antigens such asD IIIa, D Va and DAR and the association of Cys16 and/or VSwith the RH cealldesin Sickle Cell Disease (SCD) patients due to their ethnical origin. DNA samples from 91 SCD patients phenotyped asrr and Ror were tested for RHDψ and RHD-CE-D S hybrid gene by two different multiplex-PCR Eighteen of the 91 SCD patients studied had the RHDψ, 2 had the RHD-CE-D S hybrid gene and 3 completely lack the RHD. These data confirm that the inclusion of two different multiplex PCRs for RHD genotype is essential to test the D-negative SOD patients. We also investigated the occurrence of D IIIa, D Va and DAR in a cohort of SCD patients phenotyped as D+. DNA samples from 130 SCD patients were tested for 455A>C, 667T>G, and IO25T>CbyPCR-RFLP. The PCR-RFLP results showed that 3 samples were heterozygous D IIIa, 4 were heterozygous DAR, 4 samples were homozygous D Va, and 105 were normal RHD. Theremaining 14 samples were heterozygous D IIIa and DAR Anti-D was detected in the serum of two of these patients These results show that D IIIa and DAR are prevalent in SCD patients and may occur concomitantlyin the same patient. We believe that this is the first description of concomitant occurrence of D IIIa and DAR alleles. Thus, genotyping for both D IIIa and DAR is use ful for the management of SCD patients DNA samples from 58 SCD patients were tested for 48 G>C transversion encoding for Cysl 6 and for VS status by allele-specific PCR and PCR-RFLP. Fifty-six of the 58 SCD patients studied had Cys16. Of these 56, 50 of them were also heterozygous for 245Val (VS). These 50 samples showed a weak "e" expression on RBCs with three monoclonal anti-e. We found a high incidence of Cysl6 associated with the RH ceallele in our SCD cohort. Interestingly, we observed that a high percentage of these patients also carried VS in a heterozygou smanner resulting in a weak expression of e antigen on RBCs. In conclusion, genotyping for RHD and RHCE variants is use ful for the management of SCD patients.
Rights: aberto
Identifier DOI: 
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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