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 language | English |
|---|---|
| Pages (from-to) | 209-214 |
| Number of pages | 6 |
| Journal | La Ricerca in Clinica e in Laboratorio |
| Volume | 17 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Jul 1987 |
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Keywords
- Ferritin gene
- Idiopathic hemochromatosis
- Iron proteins
- Transferrin gene
- Transferrin receptor gene
ASJC Scopus subject areas
- Clinical Biochemistry
Cite this
Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis. / Sampietro, Maurizio; Cairo, Gaetano; Piperno, Alberto; Fargion, Silvia; Bardella, Luisa; Schiaffonati, Luisa; Fiorelli, Gemino.
In: La Ricerca in Clinica e in Laboratorio, Vol. 17, No. 3, 07.1987, p. 209-214.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis
AU - Sampietro, Maurizio
AU - Cairo, Gaetano
AU - Piperno, Alberto
AU - Fargion, Silvia
AU - Bardella, Luisa
AU - Schiaffonati, Luisa
AU - Fiorelli, Gemino
PY - 1987/7
Y1 - 1987/7
N2 - 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.
AB - 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.
KW - Ferritin gene
KW - Idiopathic hemochromatosis
KW - Iron proteins
KW - Transferrin gene
KW - Transferrin receptor gene
UR - http://www.scopus.com/inward/record.url?scp=0023373369&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0023373369&partnerID=8YFLogxK
U2 - 10.1007/BF02912533
DO - 10.1007/BF02912533
M3 - Article
VL - 17
SP - 209
EP - 214
JO - Ricerca in Clinica e in Laboratorio
JF - Ricerca in Clinica e in Laboratorio
SN - 0940-5437
IS - 3
ER -