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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleDetection Of Somatic Mutations Of The Pig-a Gene In Brazilian Patients With Paroxysmal Nocturnal Hemoglobinuria.pt_BR
dc.contributor.authorFranco De Carvalho, Rpt_BR
dc.contributor.authorArruda, V Rpt_BR
dc.contributor.authorSaad, S Tpt_BR
dc.contributor.authorCosta, F Fpt_BR
unicamp.authorR Franco De Carvalho, Centro de Hematologia e Hemoterapia - Hemocentro, Universidade Estadual de Campinas, Campinas, SP, Brasil.pt_BR
unicamp.author.externalV R Arruda,pt
unicamp.author.externalS T Saad,pt
unicamp.author.externalF F Costa,pt
dc.subjectAdolescentpt_BR
dc.subjectAdultpt_BR
dc.subjectAgedpt_BR
dc.subjectBase Sequencept_BR
dc.subjectBrazilpt_BR
dc.subjectFemalept_BR
dc.subjectFrameshift Mutationpt_BR
dc.subjectGlycosylphosphatidylinositolspt_BR
dc.subjectHemoglobinuria, Paroxysmalpt_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectMembrane Proteinspt_BR
dc.subjectMutationpt_BR
dc.subjectMutation, Missensept_BR
dc.subjectX Chromosomept_BR
dc.description.abstractParoxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal syndrome characterized by intravascular hemolysis mediated by complement, thrombotic events and alterations in hematopoiesis. Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X chromosome. The GPI group is responsible for the attachment of many proteins to the cytoplasmic membrane. Two of them, CD55 and CD59, have a major role in the inhibition of the action of complement on the cellular membrane of blood cells. The absence of GPI biosynthesis can lead to PNH. Since mutations in the PIG-A gene are always present in patients with PNH, the aim of this study was to characterize the mutations in the PIG-A gene in Brazilian patients. The analysis of the PIG-A gene was performed using DNA samples derived from bone marrow and peripheral blood. Conformation-sensitive gel electrophoresis was used for screening the mutation and sequencing methods were used to identify the mutations. Molecular analysis permitted the identification of three point mutations in three patients: one G-->A transition in the 5' portion of the second intron, one T-->A substitution in the second base of codon 430 (Leu430-->stop), and one deletion DeltaA in the third base of codon 63. This study represents the first description of mutations in the PIG-A gene in a Brazilian population.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.date.issued2001-Junpt_BR
dc.identifier.citationBrazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas / Sociedade Brasileira De Biofísica ... [et Al.]. v. 34, n. 6, p. 763-6, 2001-Jun.pt_BR
dc.language.isoengpt_BR
dc.description.volume34pt_BR
dc.description.firstpage763-6pt_BR
dc.rightsabertopt_BR
dc.rights.holderpt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0100-879Xpt_BR
dc.identifier.doipt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/11378665pt_BR
dc.date.available2015-11-27T12:29:17Z-
dc.date.accessioned2015-11-27T12:29:17Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:29:17Z (GMT). No. of bitstreams: 1 pmed_11378665.pdf: 186585 bytes, checksum: 1f54f6fa31dd2c9e14a534908c0d98e4 (MD5) Previous issue date: 2001en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195009-
dc.identifier.idPubmed11378665pt_BR
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