Abstract
An earlier study of reference values of iron parameters in Portugal showed significant differences between populations from northern and southern villages. This study addresses the question of the geographical distribution in Portugal of the two main mutations (C282Y and H63D) of the hereditary hemochromatosis gene, HFE. For that purpose, a stratified sample of 640 anonymous dried blood spot samples was randomly selected from the major regions of Portugal: North, Center, Lisbon and the Tagus Valley, Alentejo and Algarve. Differences in the geographical distribution of these two mutations were observed thus confirming the presumed differences between the age of the two mutations which is compatible with the postulated Celtic/Nordic origin of the C282Y mutation. The finding of a significantly higher allelic frequency of the C282Y mutation in the North (0.058) than in the South (0.009) could also point to an effect of differential selective forces acting in the different geographical areas of the country. Data on archaeological, ethnographic and linguistic records and on the North/South distribution of Portuguese cattle breeds of European or African origin have also been reported. In addition to their interest for population genetics, the results represent a reminder of the need to take into account regional differences in the design of strategies for population screening of hereditary hemochromatosis.
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Acknowledgements
Carla Cardoso is recipient of a PhD fellowship PRAXIS XXI (BD/13383/97). We thank Vienna Lab (Austria) for providing the study with kits for genotyping of HFE mutations. We gratefully acknowledge Drs R Vaz Osório, C Sá Miranda and L Vilarinho from the Institute of Medical Genetics (Porto, Portugal) for their interest and support of the present study. We also thank Drs J Vieira, C Vieira and AT Merryweather-Clarke for the helpful discussion of the manuscript. The work was funded in part by a joint grant of the C Gulbenkian and the National Science and Technology Foundations and the financial support of the American Portuguese Biomedical Research Fund (APBRF, USA).
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Cardoso, C., Oliveira, P., Porto, G. et al. Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal. Eur J Hum Genet 9, 843–848 (2001). https://doi.org/10.1038/sj.ejhg.5200723
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DOI: https://doi.org/10.1038/sj.ejhg.5200723
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