title: Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany.
abstract: Hereditary hemochromatosis (HH) gene mutations, C282Y and H63D, have been screened in a cohort of 254 presumably healthy persons originating from a western region of France. The carrier frequencies of these mutations and the incidence of HH have been estimated and compared with those of other studies. This cohort contains two C282Y/C282Y genotypes and has the highest C282Y heterozygosity frequency (17.46%) ever reported.
authors.affiliation: Laboratoire de Biochimie et de Biologie moléculaire, Centre Hospitalier Laennec, Quimper, France.
authors.forename: P
authors.initials: P
authors.lastname: Jézéquel
authors.forename: M
authors.initials: M
authors.lastname: Bargain
authors.forename: F
authors.initials: F
authors.lastname: Lellouche
authors.forename: F
authors.initials: F
authors.lastname: Geffroy
authors.forename: I
authors.initials: I
authors.lastname: Dorval
mesh_terms: D000328:Adult; D015331:Cohort Studies; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D008565:Membrane Proteins; D017720:Molecular Epidemiology; D017354:Point Mutation / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins