Summary
The authors have studied HLA class I polymorphism in an attempt to identify a genomic marker of the hemochromatosis gene. Five enzymes were used (HindIII, EcoRI, EcoRV, PvuII, and HincII) in 47–106 unrelated patients and 71–91 controls. Both populations were HLA-typed. The relationship between the restriction fragments and HLA-A antigens was considered. Comparison of the two groups revealed a significantly high frequence of one 14kb EcoRI fragment among the HLA-A3 hemochromatosis patients. The fragment hybridizes to an HLA-A specific probe but not to an HLA-B specific probe, and is associated with the hemochromatosis gene, which is itself associated with HLA-A3.
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This paper is dedicated to the memory of Professor Marcel Simon
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Jouanolle, AM., Yaouanq, J., Blayau, M. et al. HLA class I gene polymorphism in genetic hemochromatosis. Hum Genet 85, 279–282 (1990). https://doi.org/10.1007/BF00206746
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DOI: https://doi.org/10.1007/BF00206746