Literature DB >> 6167540

Genetic mapping of the hemochromatosis locus on chromosome six.

C Q Edwards, G E Cartwright, M H Skolnick, D B Amos.   

Abstract

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.

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Year:  1980        PMID: 6167540     DOI: 10.1016/0198-8859(80)90005-1

Source DB:  PubMed          Journal:  Hum Immunol        ISSN: 0198-8859            Impact factor:   2.850


  4 in total

1.  Some medical applications of the oxford scanning proton microprobe.

Authors:  D J Vaux; G W Grime; F Watt
Journal:  Biol Trace Elem Res       Date:  1987-08       Impact factor: 3.738

2.  Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands.

Authors:  N Milman; N Graudal; L S Nielsen; B Mathiassen; P Tauris; B Lund; J S Kristensen; K Fenger
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

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

Authors:  C Q Edwards; L M Griffen; M M Dadone; M H Skolnick; J P Kushner
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

4.  Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

Authors:  M Santos; M W Schilham; L H Rademakers; J J Marx; M de Sousa; H Clevers
Journal:  J Exp Med       Date:  1996-11-01       Impact factor: 14.307

  4 in total

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