Literature DB >> 9032646

Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.

R S Ajioka1, P Yu, J R Gruen, C Q Edwards, L M Griffen, J P Kushner.   

Abstract

Hereditary haemochromatosis (HFE) is a common inherited disorder, affecting approximately five per thousand white people of northern European descent. Genetic linkage and linkage disequilibrium studies indicate that the disease locus is tightly linked to HLA-A and D6S105. Recombination between HFE and HLA class I loci is known to be rare. We report here two pedigrees in which recombinations telomeric of HLA-A occurred. These recombinant events define new centromeric and telomeric borders for the HFE locus.

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Year:  1997        PMID： 9032646      PMCID： PMC1050843          DOI： 10.1136/jmg.34.1.28

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

2.  Expression of hemochromatosis in homozygous subjects. Implications for early diagnosis and prevention.

Authors:  L W Powell; K M Summers; P G Board; E Axelsen; S Webb; J W Halliday
Journal:  Gastroenterology       Date:  1990-06       Impact factor: 22.682

3.  Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F.

Authors:  L M Calandro; D M Baer; G F Sensabaugh
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

4.  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

5.  Localization of the hemochromatosis gene close to D6S105.

Authors:  E C Jazwinska; S C Lee; S I Webb; J W Halliday; L W Powell
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

6.  Linkage disequilibrium predicts physical distance in the adenomatous polyposis coli region.

Authors:  L B Jorde; W S Watkins; M Carlson; J Groden; H Albertsen; A Thliveris; M Leppert
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

7.  Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

Authors:  E C Jazwinska; W R Pyper; M J Burt; J L Francis; S Goldwurm; S I Webb; S C Lee; J W Halliday; L W Powell
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

8.  Mapping recombinant events with molecular markers in hemochromatosis pedigrees.

Authors:  E S Radisky; R S Ajioka; C Q Edwards; L M Griffen; J P Kushner
Journal:  Cytogenet Cell Genet       Date:  1994

9.  Alleles at D6S265 and D6S105 define a haemochromatosis-specific genotype.

Authors:  M Worwood; R Raha-Chowdhury; M T Dorak; C Darke; D J Bowen; A K Burnett
Journal:  Br J Haematol       Date:  1994-04       Impact factor: 6.998

10.  Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis.

Authors:  R Raha-Chowdhury; D J Bowen; A K Burnett; M Worwood
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
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  1 in total

1.  Effects of highly conserved major histocompatibility complex (MHC) extended haplotypes on iron and low CD8+ T lymphocyte phenotypes in HFE C282Y homozygous hemochromatosis patients from three geographically distant areas.

Authors:  Mónica Costa; Eugénia Cruz; James C Barton; Ketil Thorstensen; Sandra Morais; Berta M da Silva; Jorge P Pinto; Cristina P Vieira; Jorge Vieira; Ronald T Acton; Graça Porto
Journal:  PLoS One       Date:  2013-11-25       Impact factor: 3.240
  1 in total

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