Celtic Origin of the C282Y Mutation of Hemochromatosis
- 19 June 2000
- journal article
- research article
- Published by Mary Ann Liebert Inc in Genetic Testing
- Vol. 4 (2) , 163-169
- https://doi.org/10.1089/10906570050114876
Abstract
The main hereditary hemochromatosis mutation C282Y in the HFE gene was recently described, and the C282Y frequencies were reported for various European populations. The aim of this synthesis is to compile the Y allele frequencies of the C282Y mutation for 40 European populations. The most elevated values are observed in residual Celtic populations in Ireland, the United Kingdom, and France, in accordance with the hypothesis of Simon et al. (1980) concerning a Celtic origin of the hereditary hemochromatosis mutation.Keywords
This publication has 39 references indexed in Scilit:
- Celtic Origin of the C282Y Mutation of HemochromatosisBlood Cells, Molecules, and Diseases, 1998
- Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controlsJournal of Hepatology, 1998
- Heterogeneity of hemochromatosis in ItalyGastroenterology, 1998
- HFE mutations in patients with hereditary haemochromatosis in SwedenJournal of Internal Medicine, 1998
- Prevalence of hereditary hemochromatosis in a Massachusetts corporation: Is Celtic origin a risk factor?Hepatology, 1997
- Haplotype Analysis of Hemochromatosis: Evaluation of Different Linkage-Disequilibrium Approaches and Evolution of Disease ChromosomesAmerican Journal of Human Genetics, 1997
- Haemochromatosis and HLA–HNature Genetics, 1996
- Haemochromatosis and HLA–HNature Genetics, 1996
- A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosisNature Genetics, 1996
- Detection of over 98% cystic fibrosis mutations in a Celtic populationNature Genetics, 1992