[The prevalence of the Cys282Tyr mutation in the hemochromatosis gene in Cantabria in patients diagnosed with hereditary hemochromatosis].
BACKGROUND
The aim of our study was to evaluate the prevalence of Cys282Tyr mutation in patients with genetic haemochromatosis (GH) in Cantabria.


METHODS
The HFE Cys282Tyr mutation was determined in a cohort of 60 patients with GH and 213 controls.


RESULTS
The frequency of the Cys282Tyr mutation in control individuals was 4.4%. Sixty-seven percent of patients with GH were homozygous for the Cys282Tyr mutation. Twenty-seven percent of patients were normal at Cys282Tyr loci.


CONCLUSIONS
The prevalence of the Cys282Tyr mutation in patients with GH in Cantabria, Spain, seems to be lower than in North America and in North Europe patients.
D001483:Base Sequence; D003545:Cysteine / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D013030:Spain / Q000453:epidemiology; D014443:Tyrosine / Q000235:genetics*