HLA class I gene polymorphism in genetic hemochromatosis.
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.
Jouanolle
A M
AM
Laboratoire de Biochimie Médicale B, CHU Pontchaillou F, Rennes, France.
Yaouanq
J
J
Blayau
M
M
Périchon
M
M
Fauchet
R
R
Font
M P
MP
Le Gall
J Y
JY
David
V
V
D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
D006680:HLA Antigens; D015395:Histocompatibility Antigens Class I