Literature DB >> 507053

Genetic linkage between hereditary hemochromatosis and HLA.

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

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.

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Year:  1979        PMID： 507053      PMCID： PMC1685917     

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


  37 in total

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Authors:  R WILLIAMS; P J SCHEUER; S SHERLOCK
Journal:  Q J Med       Date:  1962-07

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Journal:  Br Med J       Date:  1961-11-11

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Journal:  Ann Hum Genet       Date:  1958-11       Impact factor: 1.670

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Journal:  Australas Ann Med       Date:  1961-05

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Journal:  Am J Med       Date:  1959-11       Impact factor: 4.965

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Journal:  Arch Mal Appar Dig Mal Nutr       Date:  1950 Sep-Oct

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Authors:  A Bomford; A L Eddleston; L A Kennedy; J R Batchelor; R Williams
Journal:  Lancet       Date:  1977-02-12       Impact factor: 79.321

9.  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

10.  Familial hemochromatosis. Physiologic studies in the precirrhotic stage of the disease.

Authors:  E R Feller; A Pont; J R Wands; E A Carter; G Foster; I A Kourides; K J Isselbacher
Journal:  N Engl J Med       Date:  1977-06-23       Impact factor: 91.245
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  31 in total

1.  Articular manifestations of systemic diseases.

Authors:  W G Bensen
Journal:  Can Fam Physician       Date:  1983-11       Impact factor: 3.275

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

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Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

3.  Estimation of segregation and linkage parameters in simulated data. II. Simultaneous estimation with one linked marker.

Authors:  R A Price; P L Kramer; D L Pauls; K K Kidd
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

4.  A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.

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Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

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Authors:  L W Powell; J Ferluga; J W Halliday; M L Bassett; M Kohonen-Corish; S Serjeantson
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

6.  Assessing the role of HLA-linked and unlinked determinants of disease.

Authors:  N Risch
Journal:  Am J Hum Genet       Date:  1987-01       Impact factor: 11.025

7.  Estimating the power of a proposed linkage study for a complex genetic trait.

Authors:  L M Ploughman; M Boehnke
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

8.  Segregation and linkage studies of plasma dopamine-beta-hydroxylase (DBH), erythrocyte catechol-O-methyltransferase (COMT), and platelet monoamine oxidase (MAO): possible linkage between the ABO locus and a gene controlling DBH activity.

Authors:  L R Goldin; E S Gershon; C R Lake; D L Murphy; M McGinniss; R S Sparkes
Journal:  Am J Hum Genet       Date:  1982-03       Impact factor: 11.025

9.  The significance of haemochromatosis gene mutations in the general population: implications for screening.

Authors:  M J Burt; P M George; J D Upton; J A Collett; C M Frampton; T M Chapman; T A Walmsley; B A Chapman
Journal:  Gut       Date:  1998-12       Impact factor: 23.059

10.  Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism.

Authors:  M Cazzola; E Ascari; G Barosi; G Claudiani; M Daccó; J P Kaltwasser; N Panaiotopoulos; K P Schalk; E E Werner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132
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