6号染色体上血色素沉着病基因座的基因定位
Genetic mapping of the hemochromatosis locus on chromosome six.
作者信息
Edwards C Q, Cartwright G E, Skolnick M H, Amos D B
出版信息
Hum Immunol. 1980 Jul;1(1):19-22. doi: 10.1016/0198-8859(80)90005-1.
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.
本文旨在报告一个患有遗传性血色素沉着症的家系，其中HLA - A和B位点之间发生了重组。母系和父系的HLA - A3、B7单倍型均携带血色素沉着症的一个等位基因。先证者的A3、B12单倍型是母系A3、B7和A28、B12单倍型的重组体。血色素沉着症位点与HLA - A位点连锁，而非与HLA - B位点连锁。因此，血色素沉着症位点定位于与HLA - A位点紧密相邻的位置。
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