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

Abstract

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
Volume86
Issue number6
Publication statusPublished - Apr 1991

Keywords

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

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