Polymorphism in a ferritin H gene from chromosome 6p

E Zappone, I Dugast, P Papadopoulos, K Theriault, V David, J V LeGall, K Summers, L Powell, J Drysdale

Research output: Contribution to journalArticlepeer-review


This paper addresses the question of whether abnormalities in ferritin expression in the iron storage disease hemochromatosis (HC) involve major deletions or alterations in regions containing the two ferritin H genes that lie near the disease locus on chromosome 6p. We present evidence from analyses of Southern blots that neither gene is deleted in hemochromatosis. We also describe a polymorphism in one of the genes that we have previously shown to be a processed pseudogene. This polymorphism does not correlate with the presence of HC. The PIC value for this polymorphism was calculated as 0.49.
Original languageEnglish
Pages (from-to)557-61
Number of pages5
JournalHuman Genetics
Issue number6
Publication statusPublished - Apr 1991


  • Blotting, Southern
  • Chromosomes, Human, Pair 6
  • Female
  • Ferritins
  • Hemochromatosis
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length


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