In the attempt to define the abnormalities responsible for the severe iron overload found in patients with idiopathic hemochromatosis (IH) we analyzed, in 8 patients with IH and in 7 normal subjects, by using specific cDNA probes, the genes coding for the main iron-related proteins, i.e., transferrin, transferrin receptor, as well as H and L subunits of ferritin. In all the patients tested all the probes failed to evidentiate rearranged bands with any of the restriction enzymes employed. These findings suggest the absence of gross structural alterations of the genes examined. The lack of polymorphic sites recognized by the restriction enzymes employed in this study within or around the genes examined does not allow to associate a specific gene with the disease.

Sampietro, M., Cairo, G., Piperno, A., Fargion, S., Bardella, L., Schiaffonati, L., et al. (1987). Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis. LA RICERCA IN CLINICA E IN LABORATORIO, 17(3), 209-214 [10.1007/BF02912533].

Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis

PIPERNO, ALBERTO;
1987

Abstract

In the attempt to define the abnormalities responsible for the severe iron overload found in patients with idiopathic hemochromatosis (IH) we analyzed, in 8 patients with IH and in 7 normal subjects, by using specific cDNA probes, the genes coding for the main iron-related proteins, i.e., transferrin, transferrin receptor, as well as H and L subunits of ferritin. In all the patients tested all the probes failed to evidentiate rearranged bands with any of the restriction enzymes employed. These findings suggest the absence of gross structural alterations of the genes examined. The lack of polymorphic sites recognized by the restriction enzymes employed in this study within or around the genes examined does not allow to associate a specific gene with the disease.
Articolo in rivista - Articolo scientifico
Adult; Ferritins; HLA Antigens; Hemochromatosis; Humans; Iron; Macromolecular Substances; Middle Aged; Nucleic Acid Hybridization; Receptors, Transferrin; Transferrin; Genes
English
209
214
6
Sampietro, M., Cairo, G., Piperno, A., Fargion, S., Bardella, L., Schiaffonati, L., et al. (1987). Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis. LA RICERCA IN CLINICA E IN LABORATORIO, 17(3), 209-214 [10.1007/BF02912533].
Sampietro, M; Cairo, G; Piperno, A; Fargion, S; Bardella, L; Schiaffonati, L; Fiorelli, G
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/58153
Citazioni
  • Scopus 6
  • ???jsp.display-item.citation.isi??? 7
Social impact