title: Ferritin H gene polymorphism in idiopathic hemochromatosis.
abstract: The authors studied the H ferritin restriction polymorphism in 83 hemochromatosis patients and 84 controls as well as in 19 nuclear families. No significant difference was found with the ten restriction enzymes used (HindIII, EcoRI, EcoRV, PvuII, BamHI, PstI, Bg/I, Bg/II, HincII, and TaqI). Hence, the genomic abnormality responsible for idiopathic hemochromatosis is not a major deletion of an H ferritin gene. A higher frequency of one HindIII fragment, although nonsignificant when the number of comparisons made is taken into account, was observed in the patients. This HindIII fragment hybridizes with the H ferritin probe and with a 28 S ribosomal probe, and its segregation with HLA haplotypes (hence its assignment to chromosome 6) is uncertain. Its possible meaning in the expression of the disease is discussed.
authors.affiliation: Laboratoire de Biochimie Médicale B, C.H.U. de Rennes, France.
authors.forename: V
authors.initials: V
authors.lastname: David
authors.forename: P
authors.initials: P
authors.lastname: Papadopoulos
authors.forename: J
authors.initials: J
authors.lastname: Yaouanq
authors.forename: M
authors.initials: M
authors.lastname: Blayau
authors.forename: L
authors.initials: L
authors.lastname: Abel
authors.forename: E
authors.initials: E
authors.lastname: Zappone
authors.forename: M
authors.initials: M
authors.lastname: Perichon
authors.forename: J
authors.initials: J
authors.lastname: Drysdale
authors.forename: J Y
authors.initials: JY
authors.lastname: Le Gall
authors.forename: M
authors.initials: M
authors.lastname: Simon
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D015247:Deoxyribonuclease HindIII; D005260:Female; D005293:Ferritins / Q000235:genetics*; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D006680:HLA Antigens; D004247:DNA; D005293:Ferritins; D015247:Deoxyribonuclease HindIII