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Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile

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dc.contributor.author Pardo, Rosa
dc.contributor.author Suazo, José
dc.contributor.author Castillo, Silvia
dc.contributor.author Vargasa, Marcela
dc.contributor.author Zalavaria, Andrea
dc.contributor.author Santos, José Luis
dc.contributor.author Blanco, Rafael
dc.contributor.author Rotter, Karin
dc.contributor.author Solar, Margarita
dc.contributor.author Tapia, Eva
dc.date.accessioned 2017-03-02T18:59:57Z
dc.date.available 2017-03-02T18:59:57Z
dc.date.issued 2014
dc.identifier.citation Revista Médica de Chile 2014, vol.142,p.587-592 es_CL
dc.identifier.uri http://dx.doi.org/10.4067/S0034-98872014000500006 es_CL
dc.identifier.uri http://hdl.handle.net/11447/990
dc.description.abstract Background: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifida decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the etiology of spina bifida. Aim: To evaluate the association between myelomeningocele (MM) and c.A1298C and c.C677T polymorphisms within the coding gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) in the Chilean population. Material and Methods: These polymorphisms were genotyped in 105 patients showing isolated MM, born after the onset of FA fortification, and in their parents. The transmission disequilibrium test (TDT) was performed to evaluate alterations in the transmission of both alleles and haplotypes MTHFR polymorphism. We also evaluated the presence of parent-origin-effect (POE) of alleles using the Clayton’s extension of the TDT. Results: TDT analysis showed no significant distortions in the transmission of alleles or haplotypes. Moreover, although the POE showed increased risk for maternally derived allele, this risk was not statistically significant. Conclusions: The studied variants in the MTHFR gene (c.C677T and c.A1298C) do not constitute risk factors for MM in this sample of Chilean patients and their parents. es_CL
dc.format.extent 6 es_CL
dc.language.iso spa es_CL
dc.publisher Sociedad Médica de Santiago es_CL
dc.subject Myelomeningocele, folic acid, MTHRF protein, human es_CL
dc.subject Spinal dysraphism es_CL
dc.title Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile es_CL
dc.title.alternative Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele es_CL
dc.type Artículo es_CL


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