Affiliations: Dep. Toxicología y Legislación Sanitaria,
Facultad de Medicina, Universidad Complutense de Madrid, 28040-Madrid,
Spain | Sección de Antropología, Dep. Biología
Animal I, Facultad de Ciencias Biológicas, Universidad Complutense de Madrid,
28040-Madrid, Spain
Note: [] Dep. Toxicología y Legislación Sanitaria, Facultad de
Medicina, Universidad Complutense de Madrid, 28040-Madrid, Spain. Tel.: +34 91
3941576; Fax: +34 91 3941606; E-mail: eduardoa@eucmax.sim.ucm.es
Abstract: {\it Objectives:} To determine the frequency of hereditary
hemochromatosis gene mutations, C282Y and H63D, from 125 autochthonous blood
donors originating from a Central region of Spain, to provide epidemiological
data about HFE gene in the Iberian Peninsula. {\it Methods:} DNA extracted from blood samples was analyzed by
PCR-RFLP. Restriction enzimes were Snab I and Bcl I for C282Y and H63D,
respectively. Results were visualized with Ethidium Bromide staining after gel
electrophoresis. {\it Results and discussion:} C282Y frequency was 0.02 and that of
H63D was 0.16. Result for C282Y mutation falls within the range of variation of
the Mediterranean populations. H63D frequency agrees with those reported for
other European populations. In both cases frequencies obtained are the lowest
of compared Spanish data. {\it Conclusions:} This study is useful to compare expected versus
presented C282Y and H63D frequencies in Spanish populations and to contribute
to the knowledge of Spanish variability, rarely analyzed until now for HFE gene
mutations.
