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. 1986 Jun;38(6):805-11.

Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A

C Q Edwards, L M Griffen, M M Dadone, M H Skolnick, J P Kushner

Mapping the locus for hereditary hemochromatosis: localization between HLA-B and HLA-A

C Q Edwards et al. Am J Hum Genet. 1986 Jun.

Abstract

We studied a family with HLA-linked hereditary hemochromatosis in which an informative recombination occurred within the HLA region. The father, an obligate heterozygote for hereditary hemochromatosis, had HLA haplotypes A2,B13 and A11,B27. The mother, also an obligate heterozygote, had HLA haplotypes A29,B44 and A2,B7. Three haplotypes were found among three homozygous affected offspring. Two affected siblings were HLA-identical with haplotypes A2,B13 and A29,B44. The proband had HLA haplotypes A2,B13 and A2,B44, the latter a recombinant haplotype inherited from her mother. Since the maternal hemochromatosis allele was linked to the A29,B44 haplotype, and since the proband has hemochromatosis, the maternal hemochromatosis allele was transmitted to the proband with the B44 antigen. This is the first known example of recombination in an individual with HLA-linked hemochromatosis in whom the hemochromatosis allele appeared to segregate with the HLA-B antigen instead of the -A antigen. The possibility of either a double reciprocal recombination event or a gene conversion event cannot be excluded. Combined with earlier observations of segregation of the hemochromatosis allele with the A locus in HLA recombinants, the findings in this pedigree map the hemochromatosis locus between the HLA-B and HLA-A loci rather than outside the HLA region.

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References

    1. Clin Genet. 1974;5(3):234-41 - PubMed
    1. Gastroenterology. 1985 May;88(5 Pt 1):1232-8 - PubMed
    1. Tissue Antigens. 1976 May;7(5):273-9 - PubMed
    1. N Engl J Med. 1977 Jul 7;297(1):7-13 - PubMed
    1. N Engl J Med. 1977 Nov 10;297(19):1017-21 - PubMed

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