Hum Genet. 1990 Aug;85(3):279-82.

HLA class I gene polymorphism in genetic hemochromatosis.

Jouanolle AM, Yaouanq J, Blayau M, Périchon M, Fauchet R, Font MP, Le Gall JY, David V.

Source

Laboratoire de Biochimie Médicale B, CHU Pontchaillou F, Rennes, France.

Abstract

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.

PMID:: 1975556; [PubMed - indexed for MEDLINE]

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