Ferritin H gene polymorphism in idiopathic hemochromatosis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1989-01

AUTHORS

Véronique David, Panos Papadopoulos, Jacqueline Yaouanq, Martine Blayau, Laurent Abel, Elizabetta Zappone, Muriel Perichon, Jim Drysdale, Jean-Yves Le Gall, Marcel Simon

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, BglI, BglII, 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. More... »

PAGES

123-126

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00293887

DOI

http://dx.doi.org/10.1007/bf00293887

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041947864

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/2563249


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