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- Title
The origin and spread of theHFE-C282Y haemochromatosis mutation.
- Authors
Distante, S.; Robson, K.; Graham-Campbell, J.; Arnaiz-Villena, A.; Brissot, P.; Worwood, Mark
- Abstract
The mutation responsible for most cases of genetic haemochromatosis in Europe(HFEC282Y) appears to have been originated as a unique event on a chromosome carryingHLA-A3and-B7. It is often described as a “Celtic mutation”-originating in a Celtic population in central Europe and spreading west and north by population movement. It has also been suggested that Viking migrations were largely responsible for the distribution of this mutation. Two, initial estimates of the age of the mutation are compatible with either of these suggestions. Here we examine the evidence aboutHFEC282Y frequencies, extended haplotypes involvingHLA-Aand-Balleles, the validity of calculations of mutation age, selective advantage and current views on the relative importance of “demic-diffusion” (population migration) and “adoption-diffusion” (cultural change) in the neolithic transition in Europe and since then. We conclude that theHFEC282Y mutation occurred in mainland Europe before 4,000BC.
- Subjects
EUROPE; GENETIC mutation; CHROMOSOMES; HLA histocompatibility antigens
- Publication
Human Genetics, 2004, Vol 115, Issue 4, p269
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s00439-004-1152-4