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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleDNAase I hypersensitive site 3 ' to the beta-globin gene cluster containing two Taa insertions and a G -> A polymorphism is predominantly associated with the beta(+)-thalassemia ivs-1-6 (T -> C) mutationpt_BR
dc.contributor.authorMartins, JTNpt_BR
dc.contributor.authorBordin, Spt_BR
dc.contributor.authorde Albuquerque, DMpt_BR
dc.contributor.authorSaad, STOpt_BR
dc.contributor.authorCosta, FFpt_BR
unicamp.author.emailferreira@unicamp.brpt_BR
unicamp.authorUniv Estadual Campinas, Haematol & Haemotherapy Ctr, BR-13083970 Campinas, SP, Brazil Univ Sao Paulo, Inst Biomed Sci, Dept Physiol & Biophys, Sao Paulo, Brazil Univ Estadual Campinas, Dept Clin Med, BR-13083970 Campinas, SP, Brazilpt_BR
dc.subjectbeta-thalassemia (thal)pt_BR
dc.subjectbeta-globin haplotypespt_BR
dc.subjecthemoglobin (Hb)pt_BR
dc.subjectlocus control region (LCR)pt_BR
dc.subjecthuman polymorphismpt_BR
dc.subject.wosThalassemiapt_BR
dc.description.abstractAnalysis of DNA polymorphic sites is an important tool for the detection of gene flow in human evolutionary studies and to study the genetic background for gene mutations. The beta-globin locus contains several single-base restriction fragment length polymorphism (RFLP) sites throughout chromosome 11. In addition to these polymorphic sequence repeats, others are being studied in order to expand our knowledge concerning the role between haplotype-genotype and phenotype associations. Far downstream of the expressed beta-globin genes, there is a hypersensitive site (HS) whose function remains obscure. We sequenced this region in 27 thalassemia patients and found a new pattern in the micro-satellite-like AT-rich region of this site: a new TAA insertion in addition to the one previously described in sickle cell patients with a concomitant polymorphism (G-->A). This new variation was found to be linked to the IVS-I-6 (T-->C) mutation. This polymorphism may be useful for studies concerning genotype and phenotype associations.pt
dc.relation.ispartofHemoglobinpt_BR
dc.relation.ispartofabbreviationHemoglobinpt_BR
dc.publisher.cityNew Yorkpt_BR
dc.publisher.countryEUApt_BR
dc.publisherMarcel Dekker Incpt_BR
dc.date.issued2005pt_BR
dc.identifier.citationHemoglobin. Marcel Dekker Inc, v. 29, n. 1, n. 85, n. 89, 2005.pt_BR
dc.language.isoenpt_BR
dc.description.volume29pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage85pt_BR
dc.description.lastpage89pt_BR
dc.rightsfechadopt_BR
dc.sourceWeb of Sciencept_BR
unicamp.cruespUSPpt_BR
dc.identifier.issn0363-0269pt_BR
dc.identifier.wosidWOS:000227362400011pt_BR
dc.identifier.doi10.1081/HEM-200047059pt_BR
dc.date.available2014-07-30T14:49:22Z
dc.date.available2015-11-26T17:43:06Z-
dc.date.accessioned2014-07-30T14:49:22Z
dc.date.accessioned2015-11-26T17:43:06Z-
dc.description.provenanceMade available in DSpace on 2014-07-30T14:49:22Z (GMT). No. of bitstreams: 0 Previous issue date: 2005en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:43:06Z (GMT). No. of bitstreams: 0 Previous issue date: 2005en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/62408
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/62408-
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