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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleHaplotype Analysis And Agamma Gene Polymorphism Associated With The Brazilian Type Of Hereditary Persistence Of Fetal Hemoglobin.pt_BR
dc.contributor.authorBordin, Spt_BR
dc.contributor.authorMartins, J Tpt_BR
dc.contributor.authorGonçalves, M Spt_BR
dc.contributor.authorMelo, M Bpt_BR
dc.contributor.authorSaad, S Tpt_BR
dc.contributor.authorCosta, F Fpt_BR
unicamp.authorS Bordin, Centro de Hematologia e Hemoterapia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, São Paulo, Brazil.pt_BR
unicamp.author.externalJ T Martins,pt
unicamp.author.externalM S Gonçalves,pt
unicamp.author.externalM B Melo,pt
unicamp.author.externalS T Saad,pt
unicamp.author.externalF F Costa,pt
dc.subjectAdultpt_BR
dc.subjectBase Sequencept_BR
dc.subjectBeta-globulinspt_BR
dc.subjectChildpt_BR
dc.subjectChromosome Mappingpt_BR
dc.subjectFemalept_BR
dc.subjectFetal Hemoglobinpt_BR
dc.subjectHaplotypespt_BR
dc.subjectHeterozygotept_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectMolecular Sequence Datapt_BR
dc.subjectMultigene Familypt_BR
dc.subjectPedigreept_BR
dc.subjectPoint Mutationpt_BR
dc.subjectPolymorphism, Geneticpt_BR
dc.description.abstractWe have identified three unrelated individuals and three members of a family with the non-deletion form of Agamma-hereditary persistence of fetal hemoglobin (HPFH). Molecular analysis showed that each individual is a heterozygote for a previously described -195 Agamma (C-->G) mutation. The beta-globin gene cluster was studied using the polymerase chain reaction and related techniques. Haplotyping using nine restriction sites identified two closely related chromosomes with the -195Agamma mutation, differing only in a single site 3' to the beta-globin gene. Further analysis of beta-globin framework indicated that the HPFH allele segregates with haplotype V, according to Orkin's classification. The second haplotype probably originated by a point mutation or DNA rearrangement of a pre-existing -195Agamma chromosome. We also determined the sequences from -622 to +55 bp upstream to the Agamma gene and part of the Agamma IVS-2. We found four polymorphisms associated to the -195Agamma promoter region. All -195Agamma chromosomes had a G at positions -588 and +25 relative to the Agamma gene. One individual was also homozygous for polymorphisms at -398 (G-->A), and another at -369 (C-->G). Cloning and sequencing of the polymorphic patterns of the 3' region of Agamma IVS-2 showed that the mutated allele is linked to beta-globin chromosome B. Some correlations between chromosome characteristics and Agamma point mutations were also observed.en
dc.relation.ispartofAmerican Journal Of Hematologypt_BR
dc.relation.ispartofabbreviationAm. J. Hematol.pt_BR
dc.date.issued1998-Maypt_BR
dc.identifier.citationAmerican Journal Of Hematology. v. 58, n. 1, p. 49-54, 1998-May.pt_BR
dc.language.isoengpt_BR
dc.description.volume58pt_BR
dc.description.firstpage49-54pt_BR
dc.rightsfechadopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0361-8609pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/9590149pt_BR
dc.date.available2015-11-27T12:19:13Z-
dc.date.accessioned2015-11-27T12:19:13Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:19:13Z (GMT). No. of bitstreams: 1 pmed_9590149.pdf: 190277 bytes, checksum: d62237fed26d0c0b114630fa01db6318 (MD5) Previous issue date: 1998en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194162-
dc.identifier.idPubmed9590149pt_BR
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