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HLA class I gene polymorphism in genetic hemochromatosis

✍ Scribed by Anne-Marie Jouanolle; Jacqueline Yaouanq; Martine Blayau; Muriel Périchon; Renée Fauchet; Marie-Pierre Font; Jean-Yves Gall; Véronique David

Publisher
Springer
Year
1990
Tongue
English
Weight
545 KB
Volume
85
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 frequency of one 14 kb 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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