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Vol. 46. Núm. 6.
Páginas 234-244 (enero 2003)
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Vol. 46. Núm. 6.
Páginas 234-244 (enero 2003)
Acceso a texto completo
Polimorfismo C677T del gen de la metilenotetrahidrofolato reductasa en mujeres gestantes
C677T mutation in the methylenetetrahydrofolate reductase gene in pregnant women
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5480
M.T. Escuderoa, G. Ballesterosa,b,
Autor para correspondencia
dmebog@humv.es

Correspondencia: Servicio de Obstetricia y Ginecología. Hospital Universitario Marqués de Valdecilla. Cazoña, s/n. 39011 Santander. España
, J. Leónc
a Servicio de Ginecología. Hospital Universitario Marqués de Valdecilla. Santander. España
b Departamento de Ciencias Médicas y Quirúrgicas. Universidat de Cantabria. Santander. España
c Departamento de Biología Molecular. Universidad de Cantabria. Santander. España
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Bibliografía
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Estadísticas
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

Método

Estudiamos el ADN genómico extraído de sangre periférica de 400 mujeres ingresadas por parto o aborto. La mutación C677T fue confirmada por secuenciación

Resultados

La 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

Conclusiones

Nuestros 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

Methods

We 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

Results

The 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

Conclusions

Our 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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Copyright © 2003. Sociedad Española de Ginecología y Obstetricia
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