Genetic linkage between hereditary hemochromatosis and HLA.
A large Mormon pedigree of a proband with hemochromatosis was studied, using transferrin saturation as the quantitative phenotypic trait. The analysis indicated that the inheritance of hemochromatosis was recessive, with partial expression in some heterozygotes. The lod score of 6.88 (theta = .0) was strongly indicative of linkage between the hemochromatosis locus and the human major histocompatibility (HLA) loci.
D002874:Chromosome Mapping; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D008285:Major Histocompatibility Complex; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014168:Transferrin / Q000032:analysis
D006680:HLA Antigens; D014168:Transferrin; D007501:Iron