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. 1997 Jan;34(1):28-33.
doi: 10.1136/jmg.34.1.28.

Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus

R S Ajioka  1 , P Yu, J R Gruen, C Q Edwards, L M Griffen, J P Kushner
Affiliations

Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus

R S Ajioka et al. J Med Genet. 1997 Jan.

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.

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