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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleMolecular characterization of glucose-6-phosphate dehydrogenase deficiency in Brazilpt_BR
dc.contributor.authorSaad, STOpt_BR
dc.contributor.authorSalles, TSIpt_BR
dc.contributor.authorCarvalho, MHMpt_BR
dc.contributor.authorCosta, FFpt_BR
unicamp.authorUNIV ESTADUAL CAMPINAS,HEMOCTR CAMPINAS,BR-13081970 CAMPINAS,SP,BRAZIL UNIV ESTADUAL CAMPINAS,DEPT CLIN MED,BR-13081970 CAMPINAS,SP,BRAZILpt_BR
dc.subjectglucose-6-phosphate dehydrogenase deficiencypt_BR
dc.subjectBrazilpt_BR
dc.subject.wosG6pd Deficiencypt_BR
dc.subject.wosGenept_BR
dc.subject.wosDnapt_BR
dc.subject.wosAmplificationpt_BR
dc.subject.wosPolymorphismpt_BR
dc.subject.wosSequencept_BR
dc.subject.wosMutationpt_BR
dc.subject.wosAnemiapt_BR
dc.subject.wosSitept_BR
dc.description.abstractMolecular characterization of glucose-6-phosphate dehydrogenase (G6PD) variants was carried out in 150 unrelated G6PD deficient blood donors from the region of Campinas, Brazil. By allele specific oligomer hybridization or digestion of exon 4 of the G6PD gene with the restriction endonuclease NlaII, we detected the 202 G-->A mutation in 146 individuals. This mutation was associated with the 376 G-->A substitution and only one haplotype was observed in these individuals. Digestion of exon 6 with the restriction enzyme MboII showed the presence of the Mediterranean variant in three individuals. Haplotype analysis showed, in all three samples, a T at nt 1311 and the C at nt 13 in intron 11, suggesting a European origin of this variant. By SSCP analysis and direct sequencing we detected the mutation nt 1003 G-->A (335 Ala-->Thr) in one blood donor. This mutation was previously described in a boy of Indian ancestry and the variant was denominated G6PD Chatam. The case described here has no Indian ancestry; thus, we presume that the mutations have arisen independently, although we do not know the haplotype of the Indian patient. The haplotype of our case was the most common observed in our population (PvuII, BspHI+, PstI+, 1311C, NlaIII-). Thus, our data-indicate that G6PD A- with the 202 G-->A mutation is the most frequent G6PD deficiency in the population of southeastern Brazil. The remaining variants had a Mediterranean origin. These results are in agreement with the origin of the Brazilian population.pt
dc.relation.ispartofHuman Hereditypt_BR
dc.relation.ispartofabbreviationHum. Hered.pt_BR
dc.publisher.cityBaselpt_BR
dc.publisher.countrySuíçapt_BR
dc.publisherKargerpt_BR
dc.date.issued1997pt_BR
dc.date.monthofcirculationJAN-FEBpt_BR
dc.identifier.citationHuman Heredity. Karger, v. 47, n. 1, n. 17, n. 21, 1997.pt_BR
dc.language.isoenpt_BR
dc.description.volume47pt_BR
dc.description.issuenumber1pt_BR
dc.description.firstpage17pt_BR
dc.description.lastpage21pt_BR
dc.rightsfechadopt_BR
dc.rights.licensehttp://www.karger.com/Services/RightsPermissionspt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn0001-5652pt_BR
dc.identifier.wosidWOS:A1997WE60100003pt_BR
dc.identifier.doi10.1159/000154383pt_BR
dc.date.available2014-07-30T14:03:38Z
dc.date.available2015-11-26T17:40:07Z-
dc.date.accessioned2014-07-30T14:03:38Z
dc.date.accessioned2015-11-26T17:40:07Z-
dc.description.provenanceMade available in DSpace on 2014-07-30T14:03:38Z (GMT). No. of bitstreams: 0 Previous issue date: 1997en
dc.description.provenanceMade available in DSpace on 2015-11-26T17:40:07Z (GMT). No. of bitstreams: 0 Previous issue date: 1997en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57741
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57741-
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