title: Frequency of the C282Y mutation of hemochromatosis in five French populations.
abstract: Hereditary hemochromatosis mutation 845A (C282Y) in the HFE gene was recently described, and the C282Y frequencies were reported for various world populations. The aim of this study was to determine the Y allele frequencies of the C282Y mutation for five French populations. The most elevated value (= 5.6%) was obtained for Bretons, in accordance to the hypothesis indicating a Celtic origin of the hereditary hemochromatosis mutation.
authors.affiliation: Laboratory of Molecular Neurogenetics, Maison Blanche Hospital, Reims, France.
authors.forename: G
authors.initials: G
authors.lastname: Mercier
authors.forename: C
authors.initials: C
authors.lastname: Bathelier
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D005787:Gene Frequency; D005838:Genotype; D006680:HLA Antigens / Q000737:chemistry / Q000235:genetics*; D006432:Hemochromatosis / Q000208:ethnology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D017354:Point Mutation
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins