Literature DB >> 9556659

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

J M Lalouel1, L Le Mignon, M Simon, R Fauchet, M Bourel, D C Rao, N E Morton.   

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.

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Year:  1985        PMID： 9556659      PMCID： PMC1684619     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  28 in total

1.  Serotyping for homotransplantation. 18. Refinement of microdroplet lymphocyte cytotoxicity test.

Authors:  K K Mittal; M R Mickey; D P Singal; P I Terasaki
Journal:  Transplantation       Date:  1968-11       Impact factor: 4.939

2.  A unified model for complex segregation analysis.

Authors:  J M Lalouel; D C Rao; N E Morton; R C Elston
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

3.  Genetic mapping: chromosomes 6-22.

Authors:  B Keats
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

4.  Measurement of liver-iron concentration in needle-biopsy specimens.

Authors:  M Barry; S Sherlock
Journal:  Lancet       Date:  1971-01-16       Impact factor: 79.321

5.  Resolution of linkage for irregular phenotype systems.

Authors:  N E Morton; J M Lalouel
Journal:  Hum Hered       Date:  1981       Impact factor: 0.444

6.  An HLA-All association with the hemochromatosis allele?

Authors:  L Le Mignon; M Simon; R Fauchet; G Edan; M Le Reun; P Brissot; B Genetet; M Bourel
Journal:  Clin Genet       Date:  1983-09       Impact factor: 4.438

7.  Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis.

Authors:  S C FINCH; C A FINCH
Journal:  Medicine (Baltimore)       Date:  1955-12       Impact factor: 1.889

8.  An immunoradiometric assay for ferritin in the serum of normal subjects and patients with iron deficiency and iron overload.

Authors:  G M Addison; M R Beamish; C N Hales; M Hodgkins; A Jacobs; P Llewellin
Journal:  J Clin Pathol       Date:  1972-04       Impact factor: 3.411

9.  Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees.

Authors:  M M Dadone; J P Kushner; C Q Edwards; D T Bishop; M H Skolnick
Journal:  Am J Clin Pathol       Date:  1982-08       Impact factor: 2.493

10.  Genetic analysis of von Willebrand's disease in two large pedigrees: a multivariate approach.

Authors:  L R Goldin; R C Elston; J B Graham; C H Miller
Journal:  Am J Med Genet       Date:  1980
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  34 in total

1.  Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. I. Likelihood formulation and simulation results.

Authors:  J T Williams; P Van Eerdewegh; L Almasy; J Blangero
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

2.  [Demographic reproduction and genetic transmission in the north-east of the province of Quebec (18th-20th centuries)].

Authors:  G Bouchard; C Laberge; C R Scriver
Journal:  Eur J Popul       Date:  1988-09

3.  The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.

Authors:  Jac Charlesworth; Patricia L Kramer; Tom Dyer; Victor Diego; John R Samples; Jamie E Craig; David A Mackey; Alex W Hewitt; John Blangero; Mary K Wirtz
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-17       Impact factor: 4.799

4.  Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Authors:  Sarah von Spiczak; Hiltrud Muhle; Ingo Helbig; Carolien G F de Kovel; Jochen Hampe; Verena Gaus; Bobby P C Koeleman; Dick Lindhout; Stefan Schreiber; Thomas Sander; Ulrich Stephani
Journal:  Neuromolecular Med       Date:  2010-06-24       Impact factor: 3.843

5.  Genetic linkage analysis of a dichotomous trait incorporating a tightly linked quantitative trait in affected sib pairs.

Authors:  Jian Huang; Yanming Jiang
Journal:  Am J Hum Genet       Date:  2003-03-17       Impact factor: 11.025

Review 6.  Current perspectives on the genetics of unipolar depression.

Authors:  S O Moldin; T Reich; J P Rice
Journal:  Behav Genet       Date:  1991-05       Impact factor: 2.805

7.  Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.

Authors:  M Boehnke
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

8.  Allelic association under map error and recombinational heterogeneity: a tale of two sites.

Authors:  C Lonjou; A Collins; R S Ajioka; L B Jorde; J P Kushner; N E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

9.  Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus.

Authors:  R Freedman; H Coon; M Myles-Worsley; A Orr-Urtreger; A Olincy; A Davis; M Polymeropoulos; J Holik; J Hopkins; M Hoff; J Rosenthal; M C Waldo; F Reimherr; P Wender; J Yaw; D A Young; C R Breese; C Adams; D Patterson; L E Adler; L Kruglyak; S Leonard; W Byerley
Journal:  Proc Natl Acad Sci U S A       Date:  1997-01-21       Impact factor: 11.205

10.  Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

Authors:  J Yaouanq; M Perichon; M Chorney; P Pontarotti; A Le Treut; A el Kahloun; V Mauvieux; M Blayau; A M Jouanolle; B Chauvel
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025
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