Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

dc.creatorBiselli, JM
dc.creatorGoloni-Bertollo, EM
dc.creatorZampieri, BL
dc.creatorHaddad, R
dc.creatorEberlin, MN
dc.creatorPavarino-Bertelli, EC
dc.date2008
dc.date2014-11-13T16:18:01Z
dc.date2015-11-26T17:10:27Z
dc.date2014-11-13T16:18:01Z
dc.date2015-11-26T17:10:27Z
dc.date.accessioned2018-03-28T23:59:01Z
dc.date.available2018-03-28T23:59:01Z
dc.identifierGenetics And Molecular Research. Funpec-editora, v. 7, n. 1, n. 33, n. 42, 2008.
dc.identifier1676-5680
dc.identifierWOS:000256387200005
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67929
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/67929
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67929
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1280864
dc.descriptionThe aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS were evaluated. The investigation of the MTHFR C677T, MTR A2756G and RFC1 A80G polymorphisms was performed by polymerase chain reaction and enzyme digestion and the MTHFR A1298C polymorphism by allele-specific polymerase chain reaction. Hcy quantification was carried out by liquid chromatography-tandem mass spectrometry. The median number of polymorphic alleles for the four loci tested was greater in DS mothers compared to the control group, and the presence of three or more polymorphic alleles increased the risk for having a child with DS 1.74 times. Elevated maternal risk for DS was also observed when plasma Hcy concentration was higher than 4.99 mu mol/L. In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 mu mol/L are maternal risk factors for DS.
dc.description7
dc.description1
dc.description33
dc.description42
dc.languageen
dc.publisherFunpec-editora
dc.publisherRibeirao Preto
dc.publisherBrasil
dc.relationGenetics And Molecular Research
dc.relationGenet. Mol. Res.
dc.rightsfechado
dc.sourceWeb of Science
dc.subjecttrisomy 21
dc.subjectDown syndrome
dc.subjectnondisjunction
dc.subjectgenetic polymorphism
dc.subjectMethylenetetrahydrofolate Reductase Gene
dc.subjectIntroduction Mass-spectrometry
dc.subjectSynthase D919g Polymorphism
dc.subjectFolic-acid
dc.subjectChromosomal Instability
dc.subjectLinkage Disequilibrium
dc.subjectDna Hypomethylation
dc.subjectHuman-lymphocytes
dc.subjectMthfr Genotypes
dc.subjectIn-vitro
dc.titleGenetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución