Abstract

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.

Keywords

HemochromatosisProbandGeneticsLocus (genetics)Hereditary hemochromatosisHuman leukocyte antigenHeterozygote advantageGenetic linkageBiologyTransferrin saturationPhenotypeAlleleGeneMutationAntigen

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Publication Info

Year
1979
Type
article
Volume
31
Issue
5
Pages
601-19
Citations
105
Access
Closed

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K Kravitz, Mark H. Skolnick, C. Cannings et al. (1979). Genetic linkage between hereditary hemochromatosis and HLA.. PubMed , 31 (5) , 601-19.