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Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus
1Division of Hematology/Oncology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.
Journal of Medical Genetics
|January 1, 1997
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.