Frequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorTorres, L. S.
dc.creatorBelini Junior, E.
dc.creatorSilva, D. G.
dc.creatorLobo, C. L.
dc.creatorRuiz, M. A.
dc.creatorBonini-Domingos, C. R.
dc.date2014-12-03T13:11:06Z
dc.date2016-10-25T20:12:07Z
dc.date2014-12-03T13:11:06Z
dc.date2016-10-25T20:12:07Z
dc.date2013-01-01
dc.date.accessioned2017-04-06T06:26:26Z
dc.date.available2017-04-06T06:26:26Z
dc.identifierGenetics And Molecular Research. Ribeirao Preto: Funpec-editora, v. 12, n. 4, p. 6762-6766, 2013.
dc.identifier1676-5680
dc.identifierhttp://hdl.handle.net/11449/112842
dc.identifierhttp://acervodigital.unesp.br/handle/11449/112842
dc.identifier10.4238/2013.December.16.1
dc.identifierWOS:000331608000265
dc.identifierWOS000331608000265.pdf
dc.identifierhttp://dx.doi.org/10.4238/2013.December.16.1
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/923596
dc.descriptionSickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphism -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growth factor beta 1), reported to increase TNF-alpha and TGF-beta 1 production, respectively. Changes in the cytokine balance are important risk Factors for clinical events; consequently, we examined the frequencies of these polymorphisms in 240 Brazilian sickle cell anemia patients from southeast Brazil. PCR-RFLP was used to detect these polymorphism. The -509C/T (TGFB1) polymorphism was more frequent than -308G/A (TNFA), with allelic frequency of 0.3 for the mutant allele T (TGFB) agaist 0.1 for the mutant allele A (TNFA). These allelic frequencies are similar to those known from populations with ethnicity similar to the Brazilian population. Inheritance of these polymorphisms does not seem to be associated with that of the Hb S mutation; however, this information could be useful in analyses of specific clinical characteristics of sickle cell anemia.
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.languageeng
dc.publisherFunpec-editora
dc.relationGenetics and Molecular Research
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAllelic frequency
dc.subjectGenetic polymorphism
dc.subjectPCR-RFLP
dc.subjectSickle cell disease
dc.subjectSNPs
dc.subjectHemoglobin S
dc.titleFrequencies of-308G/A (TNFA) and-509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil
dc.typeOtro


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