The metabolic error involved in idiopathic hemochromatosis, as well as the underlying genetic defect remain unknown. It has, however, been recently shown that this genetic lesion occurs at a locus linked to the major histocompatibility complex, probably close to the HLA-A locus, and that the disease
Ferritin H gene polymorphism in idiopathic hemochromatosis
✍ Scribed by Véronique David; Panos Papadopoulos; Jacqueline Yaouanq; Martine Blayau; Laurent Abel; Elizabetta Zappone; Muriel Perichon; Jim Drysdale; Jean-Yves Gall; Marcel Simon
- Publisher
- Springer
- Year
- 1989
- Tongue
- English
- Weight
- 443 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0340-6717
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This paper addresses the question of whether abnormalities in ferritin expression in the iron storage disease hemochromatosis (HC) involve major deletions or alterations in regions containing the two ferritin H genes that lie near the disease locus on chromosome 6p. We present evidence from analyses
The authors have studied HLA class I polymorphism in an attempt to identify a genomic marker of the hemochromatosis gene. Five enzymes were used (HindIII, EcoRI, EcoRV, PvuII, and HincII) in 47-106 unrelated patients and 71-91 controls. Both populations were HLA-typed. The relationship between the r
The gene for idiopathic haemochromatosis is located on the short arm of chromosome 6 within i cM of the HLA-A locus. In this region there are many HLA class I genes, and there may also be a gene for the 'H' subunit of ferritin. Both HLA class I and H ferritin genes are therefore candidates for the a