title: [Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].
abstract: OBJECTIVE
  An international study on the frequency of the mutation 677C-T of the methylenetetrahydrofolate reductase (MTHFR) gene and its genotypes has been performed on a sample of consecutive liveborn infants around the world. In that study Spain participated through the ECEMC group. Here we present the distribution of the frequency of the T-allele by Spanish Regions (Autonomic Comunities).
  
  
  METHODS
  The ECEMC collaborating physicians gathered blood samples from 15 consecutive liveborn infants in 67 hospitals from all over the country during the same months, specifying the ethnicity and sex of each infant. The frequency of the mutation was estimated through the percentage with its confidence interval. The *2 of homogeneity (k-1 degrees of freedom) was used to confirm that the frequencies were not statistically different across the country.
  
  
  RESULTS
  The frequency distribution of the TT genotype does not differ significantly between Spanish Regions.
  
  
  CONCLUSIONS
  This seems to be the first nation-wide study on a homogeneous sample of individuals. The observed frequencies are in agreement with those observed in some published studies on specific Spanish geographic areas. The overall frequency is similar to that reported in Mediterranean countries.
authors.affiliation: ECEMC, CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, España.
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo
authors.forename: Elvira
authors.initials: E
authors.lastname: Rodríguez-Pinilla
authors.forename: Iris
authors.initials: I
authors.lastname: Scala
authors.forename: Generoso
authors.initials: G
authors.lastname: Andria
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Botto
mesh_terms: D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D013030:Spain / Q000453:epidemiology
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)