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dc.typeArtigo de periódicopt_BR
dc.titlePresence Of The Rhd Pseudogene And The Hybrid Rhd-ce-d(s) Gene In Brazilians With The D-negative Phenotype.pt_BR
dc.contributor.authorRodrigues, Apt_BR
dc.contributor.authorRios, Mpt_BR
dc.contributor.authorPellegrino, Jpt_BR
dc.contributor.authorCosta, F Fpt_BR
dc.contributor.authorCastilho, Lpt_BR
unicamp.authorA Rodrigues, Hemocentro, Universidade Estadual de Campinas, Campinas, SP, Brasil. Rios,pt Pellegrino,pt F Costa,pt Castilho,pt
dc.subjectAfrican Continental Ancestry Grouppt_BR
dc.subjectBlood Donorspt_BR
dc.subjectEthnic Groupspt_BR
dc.subjectEuropean Continental Ancestry Grouppt_BR
dc.subjectOncogene Proteins, Fusionpt_BR
dc.subjectPolymerase Chain Reactionpt_BR
dc.subjectPolymorphism, Geneticpt_BR
dc.subjectRecombinant Fusion Proteinspt_BR
dc.subjectRh-hr Blood-group Systempt_BR
dc.subjectSequence Analysispt_BR
dc.subjectSequence Analysis, Dnapt_BR
dc.description.abstractThe molecular basis for RHD pseudogene or RHD Psi is a 37-bp insertion in exon 4 of RHD. This insertion, found in two-thirds of D-negative Africans, appears to introduce a stop codon at position 210. The hybrid RHD-CE-Ds, where the 3' end of exon 3 and exons 4 to 8 are derived from RHCE, is associated with the VS+V- phenotype, and leads to a D-negative phenotype in people of African origin. We determined whether Brazilian blood donors of heterogeneous ethnic origin had RHD Psi and RHD-CE-Ds. DNA from 206 blood donors were tested for RHD Psi by a multiplex PCR that detects RHD, RHD Psi and the C and c alleles of RHCE. The RHD genotype was determined by comparison of size of amplified products associated with the RHD gene in both intron 4 and exon 10/3'-UTR. VS was determined by amplification of exon 5 of RHCE, and sequencing of PCR products was used to analyze C733G (Leu245Val). Twenty-two (11%) of the 206 D-negative Brazilians studied had the RHD Psi, 5 (2%) had the RHD-CE-Ds hybrid gene associated with the VS+V- phenotype, and 179 (87%) entirely lacked RHD. As expected, RHD was deleted in all the 50 individuals of Caucasian descent. Among the 156 individuals of African descent, 22 (14%) had inactive RHD and 3% had the RHD-CE-Ds hybrid gene. These data confirm that the inclusion of two different multiplex PCR for RHD is essential to test the D-negative Brazilian population in order to avoid false-positive typing of polytransfused patients and fetuses.en
dc.relation.ispartofBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]pt_BR
dc.relation.ispartofabbreviationBraz. J. Med. Biol. Res.pt_BR
dc.identifier.citationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 35, n. 7, p. 767-73, 2002-Jul.pt_BR
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