Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 2, 2001, Pages 518-529

  Sachot, Sonia ^a   Moirand, Romain ^b   Jouanolle, Anne Marie ^b   Mosser, Jean ^a   Fergelot, Patricia ^a   Deugnier, Yves ^b   Brissot, Pierre ^b   Le Gall, Jean Yves ^a   David, Véronique ^a  

^a UPR 41 CNRS Faculté de Médecine   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

Author keywords

Hemochromatosis; Iron metabolism; MHC haplotypes; Modifiers; Penetrance; Polymorphisms

Indexed keywords

DNA; GENE PRODUCT; HFE PROTEIN; HLA ANTIGEN; MICROSATELLITE DNA; UNCLASSIFIED DRUG;

ADULT; ALLELE; CHROMOSOME 4; CHROMOSOME 6; CONFERENCE PAPER; CONTROLLED STUDY; DNA MODIFICATION; FEMALE; GENE CONSTRUCT; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOME; HAPLOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IRON METABOLISM; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; PENETRANCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SIBLING; TELOMERE;

EID: 0034966139     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0394     Document Type: Conference Paper

References (48)

1. Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis
2. Hemochromatosis: Precirrhotic therapy restores normal life expectancy
3. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
4. Crystal structure of the hemochromatosis protein HFE and characterisation of its interaction with transferrin receptor
5. HFE gene knockout produces mouse model of hereditary hemochromatosis
6. Mutations analysis of the HLA-H gene in Italian haemochromatosis patients
7. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
8. Hemochromatosis and HLA-H
9. Haemochromatosis and HLA-H
10. A simple genetic test identifies 90% of UK patients with haemochromatosis
11. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany
12. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria
13. 2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in Cos-7 cells
14. 2-microglobulin-deficient mice
15. The significance of the 187G (H63D) mutation in hemochromatosis
16. Polymorphisms in the HFE gene
17. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
18. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
19. Absence of the hemochromatosis gene Cys 282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal
20. Global prevalence of putative haemochromatosis mutations
21. The hemochromatosis 845 G → A and 187 C → G mutations: Prevalence in non-Caucasian populations
22. Haemochromatosis mutations in North-East Scotland
23. Prevalence of the C282Y mutation in Brittany: Penetrance of genetic hemochromatosis
24. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in Eastern England
25. High incidence of the Cys282Tyr mutation in the HFE gene in the Irish population - Implications for haemochromatosis
26. Clinical and family study in genetic hemochromatosis: Microsatellites and HFE studies in five atypical families
27. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis
28. Haemochromatosis gene C282Y homozygotes in an elderly male population
29. HLA-H and associated proteins in patients with hemochromatosis
30. Twenty-six new polymorphic microsatellite markers around the HLA-B, -C and -E loci in the human MHC class I region
31. A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region
32. Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene
33. Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes
34. Genetic restriction of the HIV-1 infection and progression to AIDS by a deletion allele of the CKR6 structural gene
35. Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor
36. Salmonella typhi uses CFTR to enter intestinal epithelial cells
37. Multicentric origin of hemochromatosis gene (HFE) mutations
38. Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
39. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
40. The effects of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
41. A population-based study of the clinical expression of the hemochromatosis gene
42. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes
43. Recombination rates across the HLA complex: Use of microsatellites as a rapid screen for recombinant chromosomes
44. Allelic association of microsatellites of 6p in Italian hemochromatosis patients
45. Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
46. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
47. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
48. Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression