[mutations In The Methylene-tetrahydrofolate Reductase Gene And Down Syndrome].

dc.creatorGrillo, Laura Brunelli das Neves
dc.creatorAcácio, Gregório Lorenzo
dc.creatorBarini, Ricardo
dc.creatorPinto, Walter
dc.creatorBertuzzo, Carmen Silvia
dc.date
dc.date2015-11-27T12:49:26Z
dc.date2015-11-27T12:49:26Z
dc.date.accessioned2018-03-29T00:56:49Z
dc.date.available2018-03-29T00:56:49Z
dc.identifierCadernos De Saúde Pública. v. 18, n. 6, p. 1795-7
dc.identifier0102-311X
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/12488908
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/195223
dc.identifier12488908
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1295456
dc.descriptionDown syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminary study suggested that abnormal folate metabolism and the 677 (C-->T) mutation in the methylene-tetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for DS. Frequency of the MTHFR 677 (C-->T) and 1298 (A-->C) mutations was evaluated in 36 mothers of children with DS and in 200 controls. The results are consistent with the observation that the MTHFR 677 (C-->T) and 1298 (A-->C) mutations are more prevalent among mothers of children with DS than controls. In addition, the most prevalent genotype was the combination of both mutations. The results suggest that mutations in the MTHFR gene are associated with maternal risk for DS
dc.description18
dc.description1795-7
dc.languagepor
dc.relationCadernos De Saúde Pública
dc.relationCad Saude Publica
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAlleles
dc.subjectCase-control Studies
dc.subjectDown Syndrome
dc.subjectFemale
dc.subjectGenetic Predisposition To Disease
dc.subjectGenotype
dc.subjectHumans
dc.subjectMethylenetetrahydrofolate Reductase (nadph2)
dc.subjectMutation
dc.subjectOxidoreductases Acting On Ch-nh Group Donors
dc.subjectRisk Factors
dc.title[mutations In The Methylene-tetrahydrofolate Reductase Gene And Down Syndrome].
dc.typeArtículos de revistas


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