1. bookVolumen 25 (2017): Edición 1 (January 2017)
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eISSN
2284-5623
Primera edición
08 Aug 2013
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4 veces al año
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access type Acceso abierto

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Publicado en línea: 18 Feb 2017
Volumen & Edición: Volumen 25 (2017) - Edición 1 (January 2017)
Páginas: 27 - 35
Recibido: 12 Oct 2016
Aceptado: 14 Dec 2016
Detalles de la revista
License
Formato
Revista
eISSN
2284-5623
Primera edición
08 Aug 2013
Calendario de la edición
4 veces al año
Idiomas
Inglés
Abstract

Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.

Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed.

Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57).

Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

Keywords

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