Frequency of Hemochromatosis C282Y and H63D Mutations in Sardinia
| Autor: | Maria Antonietta Melis, Antonio Cao, Milena Cau, R. Congiu, Renzo Galanello, Livia Ruvoletto |
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| Rok vydání: | 2002 |
| Předmět: |
Genetics
Heterozygote Pcr cloning Mutation Missense Heterozygote advantage Biology medicine.disease humanities Gene Frequency Italy Hereditary hemochromatosis Mutation (genetic algorithm) medicine Humans Missense mutation Hemochromatosis Restriction enzyme digestion Allele frequency Genetics (clinical) |
| Zdroj: | Genetic Testing. 6:327-329 |
| ISSN: | 1557-7473 1090-6576 |
| DOI: | 10.1089/10906570260471886 |
| Popis: | Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins. A second mutation, H63D, shows a very high widespread frequency, although its role in iron metabolism is still inconclusive. There are no data on the frequencies of these two mutations in Sardinia, an island in the Mediterranean sea that has not been invaded by Celtic peoples. We examined 836 chromosomes from Sardinian subjects and tested for the mutation by restriction enzyme digestion of PCR products. Among the 836 analyzed chromosomes, we found a C282Y allele frequency of 0.0036 and an H63D allele frequency of 0.173. These data could explain the observed rarity of HH in Sardinia. The high allele frequency of H63D and the rarity of HH in Sardinia is suggestive that this mutation is not a major contributor to this disease. |
| Databáze: | OpenAIRE |
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