title: Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene.
abstract: The HFE, H ferritin, TFR2, and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced. A novel mutation in the ferroportin 1 was found in the patient. It was located in the noncoding region of the ferroportin 1; nucleotide 117 adenine was changed to guanine, 7 nucleotides downstream the iron responsive element (IRE) region. This mutation was not found in the patient's son or daughter, or in 50 healthy individuals. It was suggested that the mutation in the ferroportin 1 may be related to hemochromatosis of this patient.
authors.affiliation: Division of Hepatobiliary and Pancreatic Disease, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya.
authors.forename: Weidong
authors.initials: W
authors.lastname: Liu
authors.forename: Souji
authors.initials: S
authors.lastname: Shimomura
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Imanishi
authors.forename: Yuna
authors.initials: Y
authors.lastname: Iwamoto
authors.forename: Naoto
authors.initials: N
authors.lastname: Ikeda
authors.forename: Masaki
authors.initials: M
authors.lastname: Saito
authors.forename: Masao
authors.initials: M
authors.lastname: Ohno
authors.forename: Naoki
authors.initials: N
authors.lastname: Hara
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Hideji
authors.initials: H
authors.lastname: Nakamura
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Hada
mesh_terms: D000328:Adult; D001706:Biopsy; D027682:Cation Transport Proteins / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014057:Tomography, X-Ray Computed; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; D000098742:Ferroportin; D004247:DNA