Study of MTHFR C677T polymorphism in neonates with isolated congenital heart disease in a Colombian population
The research of the role of gene polymorphisms in the metabolic pathways of homocysteine-methionine and folic acid in congenital malformations is very important because its effect could be modulated.Objetive: The aim of this study was to determine whether the C677T polymorphism in the gene of the en...
| Autor Principal: | García-Robles, Reggie; Pontificia Universidad Javeriana |
|---|---|
| Otros Autores: | Ayala-Ramírez, Paola Andrea; Pontificia Universidad Javeriana, Villegas, Victoria Eugenia; Universidad Colegio Mayor de Nuestra Señora del Rosario, Salazar, Marleny; Universidad del Quindío, Bernal, Jaime; Pontificia Universidad Javeriana, Núñez, Federico; Fundación Clínica Shaio, Caicedo, Víctor; Fundación Clínica Shaio, Pachón, Sonia; Fundación Clínica Shaio, Ramírez, Sandra; Universidad Colegio Mayor de Nuestra Señora del Rosario, Bermúdez, Martha; Pontificia Universidad Javeriana |
| Formato: | info:eu-repo/semantics/article |
| Idioma: | spa |
| Publicado: |
Pontificia Universidad Javeriana
2011
|
| Materias: | |
| Acceso en línea: |
http://revistas.javeriana.edu.co/index.php/vnimedica/article/view/16094 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| Sumario: |
The research of the role of gene polymorphisms in the metabolic pathways of homocysteine-methionine and folic acid in congenital malformations is very important because its effect could be modulated.Objetive: The aim of this study was to determine whether the C677T polymorphism in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR) was associated with the development of isolated congenital heart disease.Methodology: We compared the allele and genotype frequencies of this polymorphism in 34 infants with isolated congenital heart defects and 102 healthy individuals. Genotyping was performed by Polymerase Chain Reaction (PCR) and with the technique Restriction Fragment Length Polymorphism (RFLP).Results: There were no statistically significant differences in allele or genotype frequencies between case and control groups. Although our results show no statistically significant differences between the groups assessed there was a statistical trend for a possible protective effect of TT genotype against the development of congenital heart disease. |
|---|