Article
Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.
Clinical genetics - 1 Jul 2003
Milman N, Pedersen P
Abstract excerpt
Hereditary hemochromatosis has been recognized as a clinical disorder for more than 100 years. The common form of the disorder is caused by the Cys282Tyr mutation (C282Y) of the HFE gene. Hereditary hemochromatosis affects predominantly people of Northern European origin. The C282Y mutation probably occurred on a single chromosome carrying the ancestral hemochromatosis haplotype, which subsequently was spread by...
Topics
- Amino Acid Substitution
- Geography
- Hemochromatosis
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Humans
- Membrane Proteins
- Mutation
- Scandinavian and Nordic Countries