[The prevalence of the Cys282Tyr mutation in the hemochromatosis gene in Cantabria in patients diagnosed with hereditary hemochromatosis]. / Prevalencia de la mutación Cys282Tyr del gen de la hemocromatosis en Cantabria y en los pacientes diagnosticados de hemocromatosis hereditaria.
Med Clin (Barc)
; 112(12): 451-3, 1999 Apr 10.
Article
em Es
| MEDLINE
| ID: mdl-10320958
ABSTRACT
BACKGROUND:
The aim of our study was to evaluate the prevalence of Cys282Tyr mutation in patients with genetic haemochromatosis (GH) in Cantabria. PATIENTS ANDMETHODS:
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.
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Base de dados:
MEDLINE
Assunto principal:
Tirosina
/
Cisteína
/
Hemocromatose
/
Mutação
Idioma:
Es
Ano de publicação:
1999
Tipo de documento:
Article