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2009, Número 5

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Rev Med Inst Mex Seguro Soc 2009; 47 (5)


Variante C677T del gen metilenotetrahidrofolato reductasa en niños mexicanos con labio/paladar hendido no sindrómico

Dávalos-Rodríguez IP, Ramírez-Lizardo EJ, Mena JP, Ledezma-Rodríguez V, Omayra-Dávalos N, González-Mercado MG, Durán-González J, Morán-Moguel MC, Peralta-Leal V, Salazar-Páramo M, Ledezma-Gómez V

Idioma: Español
Referencias bibliográficas: 37
Paginas: 549-552
Archivo PDF: 32.48 Kb.


RESUMEN

Introducción: el labio hendido con o sin paladar hendido no sindrómico (LPHNS) es una de las anomalías de etiología multifactorial más común. La variante C677T de la enzima metileno-tetrahidrofolato reductasa (MTHFR) es responsable de una forma termolábil de la enzima, disminución de folatos y aumento de homocisteína. Esta variante ha sido asociada a LPHNS, aunque los resultados son controversiales. En este estudio se buscó determinar la frecuencia alélica y genotípica de la variante MTHFR-C677T en 67 niños mexicanos con LPHNS.
Métodos: estudio transversal comparativo de pacientes provenientes del Instituto Jalisciense de Cirugía Reconstructiva, Secretaría de Salud, Jalisco. Grupo de referencia, mexicanos sin LPHNS.
Resultados: la frecuencia alélica de la variante MTHFR-C677T fue de 39 %. No hubo diferencia estadísticamente significativa al compararla entre ambos grupos (39 versus 41 %).
Conclusiones: el genotipo homocigoto TT de los niños mexicanos con LPHNS estudiados no mostró ser un factor de riesgo mayor para dicha malformación, sin embargo, se debe considerar el tamaño de la muestra, otros genes implicados y la interacción genes-ambiente para al desarrollo de LPHNS.


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