Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous forHFE gene

Citation
H. Imanishi et al., Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous forHFE gene, INTERN MED, 40(6), 2001, pp. 479-483
Citations number
15
Language
INGLESE
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
INTERNAL MEDICINE
ISSN journal
0918-2918 → ACNP
Volume
40
Issue
6
Year of publication
2001
Pages
479 - 483
Database
ISI
SICI code
0918-2918(200106)40:6<479:IHWTMO>2.0.ZU;2-0
Abstract
Most patients with hereditary hemochromatosis are homozygous for C282Y in t he HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity. A 48-year-old Japanese p atient was recently diagnosed with idiopathic hemochromatosis, Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygo us nucleotide substitution at nucleotide 527 from C to T, which resulted in A176V amino acid substitution. Another mutation at nucleotide 942 from T t o C was observed, but this was a nonsense mutation. C282Y and another mutat ion, H63D, were not found in the patient. The mutation may have a possible role on the cause of hemochromatosis in this Japanese case.