Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene.
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.
Liu
Weidong
W
Division of Hepatobiliary and Pancreatic Disease, Department of Internal Medicine, Hyogo College of Medicine, Nishinomiya.
Shimomura
Souji
S
Imanishi
Hiroyasu
H
Iwamoto
Yuna
Y
Ikeda
Naoto
N
Saito
Masaki
M
Ohno
Masao
M
Hara
Naoki
N
Yamamoto
Tetsuo
T
Nakamura
Hideji
H
Hada
Toshikazu
T
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
D027682:Cation Transport Proteins; D000098742:Ferroportin; D004247:DNA