Celtic origin of the C282Y mutation of hemochromatosis

Genetic Testing

Volumn 4, Issue 2, 2000, Pages 163-169

  Lucotte, G ^a   Mercier, G ^b  

^a Intl Institute of Anthropology   (France)

^b European Laboratory of Screening   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HLA A ANTIGEN;

ALLELE; ARTICLE; FRANCE; GENE; GENE FREQUENCY; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; POLYMERASE CHAIN REACTION; UNITED KINGDOM;

ALLELES; EUROPE; GENE FREQUENCY; HEMOCHROMATOSIS; HUMANS; MUTATION;

EID: 0033862923     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570050114876     Document Type: Article

References (48)

1. Haplotype analysis of hemochromatosis, evaluation of different linkage disequilibrium approaches and evolution of disease chromosomes
2. Frequency of the HFE C282Y and H63D mutations in distinct ethnic groups living in Spain
3. Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism
4. Mutation analysis in hereditary hemochromatosis
5. The hemochromatosis mutations do not modify the clinical picture of thalassaemia major in patients regularly transfused and chelated
6. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
7. HFE mutations in patients with hereditary haemochromatis in Sweden
8. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic hemochromatosis
9. Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: A protective role against iron deficiency?
10. The C282Y mutation in a group of patients with hereditary hemochromatosis in southern Italy
11. High prevalence of hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy norwegian population in the city of Oslo, and its phenotypic expression
12. The most frequent HFE allele linked to porphyria cutanea tarda in Mediterraneans is His 63Asp
13. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
14. Detection of over 98% cystic fibrosis mutations in a Celtic population
15. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis
16. Hemochromatosis and HLA-H
17. Allele frequencies of hereditary hemochromatosis gene mutations in a local population of west Brittany
18. Hemochromatosis and HLA-H
19. A candidate gene for hemochromatosis, frequency of the C282Y and H63D mutations
20. Celtic origin of the C282Y mutation of hemochromatosis
21. Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that founder effect is apparent for several mutant alleles
22. Y-chromosome DNA haplotypes in Basques
23. Simple and rapid detection of the newly described mutations in the HLA-H gene
24. Frequency of the C282Y mutation of hemochromatosis in five French populations
25. Global prevalence of putative haemochromatosis mutations
26. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
27. The frequency of hemochromatosis mutation C282Y in Estonian populations
28. Phenotype-genotype correlation in haemochromatosis subjects
29. High incidence of the Cys282Tyr mutation in the HFE gene in the Irish population - Implications for hemochromatosis
30. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary hemochromatosis and in control subjects from Northern Germany
31. Heterozygosity of hemochromatosis in Italy
32. Major histocompatibility complex class I associations in iron overload, evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis
33. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
34. Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women
35. Hemochromatosis in Ireland and HFE
36. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
37. Hemochromatose idiopathique, maladie associee a l'antigene tissulaire HLA-A3?
38. The genetics of hemochromatosis
39. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: Detection of a new polymorphic mutation
40. Prevalence of hereditary hemochromatosis in a Massachusetts corporation; is celtic origin a risk factor?
41. Determination of gene frequencies of two common hemochromatosis mutations in the Danish population
42. A simple genetic test identifies 90% of UK patients with haemochromatosis
43. A haplotype and linkage disequilibrium analysis of the hereditary hemochromatosis gene region
44. High frequency of the hemochromatosis C282Y mutation in Hungary could argue against a Celtic origin of the mutation
45. 'Celtic' phenylketonuria chromosomes found? Evidence of two regions of Quebec province
46. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
47. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population of eastern England