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Glucose-6-phosphate dehydrogenase deficiency: Enzimatic and molecular analysis in a Bogotá population

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dc.creatorSánchez M.C.spa
dc.creatorVillegas Gálvez, Victoria Eugeniaspa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.date.accessioned2020-05-26T00:04:50Z
dc.date.available2020-05-26T00:04:50Z
dc.date.created2008spa
dc.description.abstractObjective: To determine the frequency of G-6PD and molecular analysis for identification of A+, A- and Mediterranean in healthy persons in Bogotá. Methods: Quantitative spectrophotometric assays for enzyme activity of G-6PD were carried out on the red cells of 348 asymptomatic and healthy adult males and females. Through molecular analysis of DNA from G-6PD deficients the relevant exons were amplified for PCR and then analysed with the restriction enzymes NlaIII, FokI and MboII, for the detection of A+, A- and Mediterranean variants. Results and conclusions: Among 348 samples, 1.4% exhibited total deficiency and 1.7% had intermediate deficiency while 96.3% were normal. The combined prevalence was 3.7%. In enzymatic activity no statistically significance was seen between males and females. No variant was found among these patients and any of the subjects studied displayed any sign of hemolysis and other clinical manifestations. Although it is not yet clearly understood other mechanisms must exist to offer protection from the oxidative stresses. The finding of severe enzyme deficiency in some heterozygote females is due to extreme degree of X inactivation of the normal chromosome. © 2008 Corporación Editora Médica del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23723
dc.language.isoengspa
dc.relation.citationEndPage23
dc.relation.citationIssueNo. 2 SUPPL.
dc.relation.citationStartPage14
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 39
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.39, No.2 SUPPL. (2008); pp. 14-23spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-52949154256&partnerID=40&md5=b59908013380918def95c0f2ce18fd37spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordGlucose 6 phosphate dehydrogenasespa
dc.subject.keywordArticlespa
dc.subject.keywordClinical featurespa
dc.subject.keywordColombiaspa
dc.subject.keywordControlled studyspa
dc.subject.keywordDisease severityspa
dc.subject.keywordDna determinationspa
dc.subject.keywordEnzyme activityspa
dc.subject.keywordEnzyme analysisspa
dc.subject.keywordErythrocytespa
dc.subject.keywordExonspa
dc.subject.keywordFemalespa
dc.subject.keywordGene amplificationspa
dc.subject.keywordGlucose 6 phosphate dehydrogenase deficiencyspa
dc.subject.keywordHemolysisspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordMolecular biologyspa
dc.subject.keywordMorbidityspa
dc.subject.keywordOxidative stressspa
dc.subject.keywordPathophysiologyspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordQuantitative analysisspa
dc.subject.keywordRestriction mappingspa
dc.subject.keywordSpectrophotometryspa
dc.subject.keywordSymptomspa
dc.subject.keywordX chromosome inactivationspa
dc.subject.keywordErythrocytespa
dc.subject.keywordGeneticsspa
dc.subject.keywordGlucose-6-phosphate dehydrogenase deficiencyspa
dc.subject.keywordHemolytic anemiaspa
dc.subject.keywordNadphspa
dc.titleGlucose-6-phosphate dehydrogenase deficiency: Enzimatic and molecular analysis in a Bogotá populationspa
dc.title.TranslatedTitleDeficiencia de glucosa 6 fostato deshidrogenasa: Análisis enzimático y molecular en una población de Bogotáspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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