AI Article Synopsis
- Hereditary haemochromatosis has been associated with specific mutations (C282Y and H63D) in the HFE gene, which show variable frequencies across Europe, especially higher in Northern regions.
- In a study of 1517 DNA samples from northwestern Poland, researchers found low prevalence rates of C282Y (0.13% homozygotes, 7.8% heterozygotes) and H63D mutations (2.5% homozygotes, 25% heterozygotes).
- The findings align with other Central European studies and support the idea that the C282Y mutation's frequency decreases as one moves south in Europe.
Article Abstract
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. In Europe, frequencies of these mutations are the highest in Northern European countries and gradually decrease southwards. We analysed the prevalence of HFE mutations in 1517 DNA samples, including 1000 samples from the general population (subjects registered at general practitioner practices) in northwestern Poland, and 517 samples of cord blood from the same region. We identified 2 (0.13%) homozygotes and 117 (7.8%) heterozygotes for the C282Y mutation. As regards the H63D mutation (1505 DNA samples analysed), 38 (2.5%) samples were homozygotes and 380 (25%) were heterozygotes. Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation.
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| http://dx.doi.org/10.1007/BF03195255 | DOI Listing |
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