Genetic mapping of the hemochromatosis locus on chromosome six.
The purpose of this paper is to report a pedigree with hereditary hemochromatosis in which a recombination between the HLA-A and B loci occurred. Both the maternal and paternal HLA-A3, B7 haplotypes were carrying an allele for hemochromatosis. The A3, B12 haplotype of the proband was a recombinant of the maternal A3, B7 and A28, B12 haplotypes. The hemochromatosis locus segregated with the HLA-A locus and not with the HLA-B locus. Thus, the hemochromatosis locus maps in close proximity to the HLA-A locus.
D000328:Adult; D000368:Aged; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D000939:Epitopes; D005260:Female; D006680:HLA Antigens; D006238:Haploidy; D006432:Hemochromatosis / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000939:Epitopes; D006680:HLA Antigens; D007501:Iron