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Research Article
Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.
  1. R S Ajioka,
  2. P Yu,
  3. J R Gruen,
  4. C Q Edwards,
  5. L M Griffen,
  6. J P Kushner
  1. Division of Hematology/Oncology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.

    Abstract

    Hereditary haemochromatosis (HFE) is a common inherited disorder, affecting approximately five per thousand white people of northern European descent. Genetic linkage and linkage disequilibrium studies indicate that the disease locus is tightly linked to HLA-A and D6S105. Recombination between HFE and HLA class I loci is known to be rare. We report here two pedigrees in which recombinations telomeric of HLA-A occurred. These recombinant events define new centromeric and telomeric borders for the HFE locus.

    https://doi.org/10.1136/jmg.34.1.28

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