title: Frequencies in the Japanese population of HFE gene mutations.
abstract: We studied the frequencies of C282Y and H63D mutations in the HFE gene, thought to be responsible for hereditary hemochromatosis (HH), in 504 chromosomes obtained from 252 unrelated Japanese. Allele-specific PCR and PCR-restriction fragment length polymorphism methods revealed that the C282Y mutation was not found and the H63D mutation was low in frequency (at only 0.99%) compared with data from European people. Since most HH is thought to be associated with the HFE gene mutation, the low incidence of these mutations is a likely reason for the rarity of this disease in the Japanese population.
authors.affiliation: First Department of Internal Medicine, School of Medicine, Fukuoka University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Sohda
authors.forename: J
authors.initials: J
authors.lastname: Yanai
authors.forename: H
authors.initials: H
authors.lastname: Soejima
authors.forename: K
authors.initials: K
authors.lastname: Tamura
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005828:Genetics, Population; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007564:Japan; D008565:Membrane Proteins; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins