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

Maurizio Sampietro, Gaetano Cairo, Alberto Piperno, Silvia Fargion, Luisa Bardella, Luisa Schiaffonati, Gemino Fiorelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)209-214
Number of pages6
JournalLa Ricerca in Clinica e in Laboratorio
Volume17
Issue number3
DOIs
Publication statusPublished - Jul 1987

Keywords

  • Ferritin gene
  • Idiopathic hemochromatosis
  • Iron proteins
  • Transferrin gene
  • Transferrin receptor gene

ASJC Scopus subject areas

  • Clinical Biochemistry

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