[Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants].
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.
Martínez-Frías
María Luisa
ML
ECEMC, CIAC, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, España.
Bermejo
Eva
E
Rodríguez-Pinilla
Elvira
E
Scala
Iris
I
Andria
Generoso
G
Botto
Lorenzo
L
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
D042965:Methylenetetrahydrofolate Reductase (NADPH2)