Información del artículo
Resumen
Objetivo
Conocer la prevalencia de la mutación C677T en el gen de la metilenotetrahidrofolato reductasa (MTHFR) en mujeres en edad reproductiva de Cantabria, ya que la disfunción enzimática que ocasiona se ha asociado con defectos de cierre del tubo neural, otras malformaciones y enfermedad de la gestación
MétodoEstudiamos el ADN genómico extraído de sangre periférica de 400 mujeres ingresadas por parto o aborto. La mutación C677T fue confirmada por secuenciación
ResultadosLa frecuencia del polimorfismo de la MTHFR fue: un 30% (intervalo de confianza [IC] del 95%, 25,6–34,8) genotipo normal; un 60% (IC del 95%, 55,0–64,8) genotipo heterocigoto, y un 10% (IC del 95%, 7,3–13,5) genotipo homocigoto mutante
ConclusionesNuestros resultados son similares a los observados en grupos australianos de raza blanca (10,7%) y británicos (12%). No obstante, son mayores que las referidas en holandeses (5%) y finlandeses (5%), y ligeramente menores que las observadas en un estudio italiano (16%) y otros llevados a cabo en España (del 13 al 17%) aunque en poblaciones muy diferentes de la nuestra
Palabras clave:
Metilenotetrahidrofolato reductasa
Polimorfismo genético
Defectos del tubo neural
Ácido fólico
Hiperhomocisteinemia
Prevalencia
Summary
Objective
To determine the prevalence of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in women of childbearing age from Cantabria (Spain), because the enzymatic dysfunction it provokes has been associated with neural tube defects (NTD), other birth defects, and pregnancy-associated diseases
MethodsWe studied the genomic DNA extracted from the peripheral blood of 400 women who were admitted to hospital for delivery or abortion. The C677T mutation was confirmed by sequencing
ResultsThe frequency of this MTHFR polymorphism was: 30% (95% CI, 25.6–34.8) normal genotype; 60% (95% CI, 55.0–64.8) heterozygous mutation genotype and 10% (95% CI, 7.3–13.5) homozygous mutation genotype
ConclusionsOur results are similar to those observed in Caucasian Australian (10.7%) and British (12%) populations but are higher than those obtained in Dutch (5%) and Finnish (5%) populations and are slightly lower than those obtained in two studies carried out in Italy (16%) and Spain (13–17%), although in populations very different from ours
Keywords:
Methylenetetrahydrofolate reductase
Genetic polymorphism
Neural tube defects
Folic acid
Hyperhomocystinemia
Prevalence
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