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PMID: 9556659 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Genetic analysis of idiopathic hemochromatosis using both qualitative (disease status) and quantitative (serum iron) information.

American journal of human genetics ·Vol. 37 ·No. 4 ·1985-07-00 ·Pages 700-18

Lalouel JM, Le Mignon L, Simon M, Fauchet R, Bourel M, Rao DC, Morton NE

Abstract

An ongoing family study of idiopathic hemochromatosis in Brittany, France, allowed us to investigate the segregation of this trait and its linkage and association to the HLA-A locus in 147 pedigrees, comprising 1,408 individuals with over 900 characterized for relevant biological parameters and typed for HLA. The joint consideration of affection status and serum iron concentration reveals no dominance effect on the latter trait and documents the increased information afforded by the consideration of a biological correlate of liability to affection for disease exhibiting incomplete penetrance. Our overall results are in general agreement with published results on a Utah family study.

MeSH Terms
Female Genetic Linkage HLA-A Antigens/genetics Hemochromatosis/genetics Humans Iron/blood Male Meiosis Models, Genetic Phenotype Transferrin/analysis
Chemicals
HLA-A Antigens Transferrin Iron
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Lalouel J M
Laboratoire d'Anthropologie Biologique, Universite Paris, France.
Le Mignon L
Simon M
Fauchet R
Bourel M
Rao D C
Morton N E
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1985-07-00
Pages
700-18
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1684619
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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