Dhfr 19-bp Deletion And Shmt C1420t Polymorphisms And Metabolite Concentrations Of The Folate Pathway In Individuals With Down Syndrome

dc.creatorMendes C.C.
dc.creatorRaimundo A.M.Z.D.A.
dc.creatorOliveira L.D.
dc.creatorZampieri B.L.
dc.creatorMarucci G.H.
dc.creatorBiselli J.M.
dc.creatorGoloni-Bertollo E.M.
dc.creatorEberlin M.N.
dc.creatorHaddad R.
dc.creatorRiccio M.F.
dc.creatorVannucchi H.
dc.creatorCarvalho V.M.
dc.creatorPavarino E.C.
dc.date2013
dc.date2015-06-25T19:10:21Z
dc.date2015-11-26T15:07:56Z
dc.date2015-06-25T19:10:21Z
dc.date2015-11-26T15:07:56Z
dc.date.accessioned2018-03-28T22:18:23Z
dc.date.available2018-03-28T22:18:23Z
dc.identifier
dc.identifierGenetic Testing And Molecular Biomarkers. , v. 17, n. 4, p. 274 - 277, 2013.
dc.identifier19450265
dc.identifier10.1089/gtmb.2012.0293
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84875666463&partnerID=40&md5=228925da78b722cc472a7e0195b7df27
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/88495
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/88495
dc.identifier2-s2.0-84875666463
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1257579
dc.descriptionBackground: Down syndrome (DS) results from the presence and expression of three copies of the genes located on chromosome 21. Studies have shown that, in addition to overexpression of the Cystathionine β-synthase (CBS) gene, polymorphisms in genes involved in folate/homocysteine (Hcy) metabolism may also influence the concentrations of metabolites of this pathway. Aim: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methods: Molecular analysis of the DHFR 19-bp deletion and SHMT C1420T polymorphisms was performed by polymerase chain reaction (PCR) by difference in the size of fragments and real-time PCR allelic discrimination, respectively. Serum folate was quantified by chemiluminescence and plasma Hcy and MMA by liquid chromatography-tandem mass spectrometry. Results: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). In addition, the MMA concentrations were negatively associated with age (p=0.04). Conclusion: There is an association between DHFR DD/SHMT TT and DHFR II/SHMT TT combined genotypes and folate and MMA concentrations in individuals with DS. © Copyright 2013, Mary Ann Liebert, Inc. 2013.
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dc.languageen
dc.publisher
dc.relationGenetic Testing and Molecular Biomarkers
dc.rightsfechado
dc.sourceScopus
dc.titleDhfr 19-bp Deletion And Shmt C1420t Polymorphisms And Metabolite Concentrations Of The Folate Pathway In Individuals With Down Syndrome
dc.typeArtículos de revistas


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