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PMID: 507053 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

Genetic linkage between hereditary hemochromatosis and HLA.

American journal of human genetics ·Vol. 31 ·No. 5 ·1979-09-00 ·Pages 601-19

Kravitz K, Skolnick M, Cannings C, Carmelli D, Baty B, Amos B, Johnson A, Mendell N, Edwards C, Cartwright G

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.

MeSH Terms
Chromosome Mapping Female Genes, Recessive Genetic Linkage HLA Antigens/genetics Hemochromatosis/blood,genetics Humans Iron/blood Major Histocompatibility Complex Male Pedigree Phenotype Transferrin/analysis
Chemicals
HLA Antigens Transferrin Iron
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Kravitz K
Skolnick M
Cannings C
Carmelli D
Baty B
Amos B
Johnson A
Mendell N
Edwards C
Cartwright G
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1979-09-00
Pages
601-19
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1685917
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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