BIOMAT Database Logo BIOMAT Database Logo

Analysis of the genes for transferrin, transferrin receptor as well as H and L subunits of ferritin in idiopathic hemochromatosis. 1987

M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Clinica Medica Generale e Terapia Medica, Università degli Studi di Milano.

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.

UI MeSH Term Description Entries
D007501 Iron A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN. Iron-56,Iron 56
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009693 Nucleic Acid Hybridization Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503) Genomic Hybridization,Acid Hybridization, Nucleic,Acid Hybridizations, Nucleic,Genomic Hybridizations,Hybridization, Genomic,Hybridization, Nucleic Acid,Hybridizations, Genomic,Hybridizations, Nucleic Acid,Nucleic Acid Hybridizations
D011990 Receptors, Transferrin Membrane glycoproteins found in high concentrations on iron-utilizing cells. They specifically bind iron-bearing transferrin, are endocytosed with its ligand and then returned to the cell surface where transferrin without its iron is released. Transferrin Receptors,Transferrin Receptor,Receptor, Transferrin
D005293 Ferritins Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types. Basic Isoferritin,Ferritin,Isoferritin,Isoferritin, Basic
D005796 Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006432 Hemochromatosis A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) Diabetes, Bronze,Bronze Diabetes,Bronzed Cirrhosis,Familial Hemochromatosis,Genetic Hemochromatosis,Haemochromatosis,Hemochromatoses,Iron Storage Disorder,Pigmentary Cirrhosis,Primary Hemochromatosis,Troisier-Hanot-Chauffard Syndrome,Von Recklenhausen-Applebaum Disease,Bronzed Cirrhoses,Cirrhoses, Bronzed,Cirrhoses, Pigmentary,Cirrhosis, Bronzed,Cirrhosis, Pigmentary,Disease, Von Recklenhausen-Applebaum,Diseases, Von Recklenhausen-Applebaum,Disorder, Iron Storage,Disorders, Iron Storage,Familial Hemochromatoses,Genetic Hemochromatoses,Haemochromatoses,Hemochromatose,Hemochromatoses, Familial,Hemochromatoses, Genetic,Hemochromatosis, Familial,Hemochromatosis, Genetic,Iron Storage Disorders,Pigmentary Cirrhoses,Recklenhausen-Applebaum Disease, Von,Recklenhausen-Applebaum Diseases, Von,Storage Disorder, Iron,Storage Disorders, Iron,Syndrome, Troisier-Hanot-Chauffard,Syndromes, Troisier-Hanot-Chauffard,Troisier Hanot Chauffard Syndrome,Troisier-Hanot-Chauffard Syndromes,Von Recklenhausen Applebaum Disease,Von Recklenhausen-Applebaum Diseases
D006680 HLA Antigens Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases. Human Leukocyte Antigen,Human Leukocyte Antigens,Leukocyte Antigens,HL-A Antigens,Antigen, Human Leukocyte,Antigens, HL-A,Antigens, HLA,Antigens, Human Leukocyte,Antigens, Leukocyte,HL A Antigens,Leukocyte Antigen, Human,Leukocyte Antigens, Human
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Transferrin receptor 1: a ferritin receptor as well?
September 2010, Gastroenterology,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Ferritin H gene polymorphism in idiopathic hemochromatosis.
January 1989, Human genetics,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Diallyl disulfide increases rat h-ferritin, L-ferritin and transferrin receptor genes in vitro in hepatic cells and in vivo in liver.
December 2002, The Journal of nutrition,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
[Ferritin and idiopathic hemochromatosis].
April 1962, Revue francaise d'etudes cliniques et biologiques,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Role of H and L subunits in mouse ferritin.
December 1996, The Journal of biological chemistry,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Regulation of transferrin, transferrin receptor, and ferritin genes in human duodenum.
March 1992, Gastroenterology,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Regulation of hepatic transferrin, transferrin receptor and ferritin genes in human siderosis.
December 1991, Hepatology (Baltimore, Md.),
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Transferrin receptor mutation analysis in hereditary hemochromatosis patients.
September 1998, Blood cells, molecules & diseases,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Neonatal hemochromatosis. Genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region.
July 1990, The American journal of pathology,
M Sampietro, and G Cairo, and A Piperno, and S Fargion, and L Bardella, and L Schiaffonati, and G Fiorelli
Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population.
March 2005, Clinica chimica acta; international journal of clinical chemistry,
Copied contents to your clipboard!