Hemochromatosis gene mutations in the general population of Slovakia

• Authors: Dana Gabriková , Iveta Boroňová , Ivan Bernasovský , Regina Behulová , Soňa Mačeková , Alexandra Bôžiková , Adriana Sovičová , Petra Švíčková , Eva Petrejčíková , Miroslav Soták , Jarmila Bernasovská
• Languages of publication: EN

Abstracts

EN

This is an epidemiologic study of the Slovak population with the aim of determining the frequencies of three hemochromatosis gene (HFE) variants C282Y, H63D and S65C known to be associated with manifestation of hereditary hemochromatosis and to assess deviations of these frequencies from those reported elsewhere. Mutations were detected in 359 ethnic Slovaks by real-time PCR assay based on TaqMan technology. The allelic frequencies were 4.03% for C282Y, 12.67% for H63D and 1.25% for S65C mutation. We observed 0.28% of C282Y/C282Y homozygotes, 3.34% H63D/H63D homozygotes, 0.84% of C282Y/H63D compound heterozygotes and 0.56% of H63D/S65C compound heterozygotes. This is the first time the frequencies of H63D and S65C mutations have been reported in the general population in Slovakia. The observed allelic frequencies are consistent with the previous studies of Slavic and Central European populations.

Keywords

EN

Hemochromatosis; HFE; Slovakia; Epidemiology

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2011
• Volume: 6
• Issue: 2
• Pages: 148-151

Dates

published

1 - 4 - 2011

online

17 - 2 - 2011

Contributors

author

Dana Gabriková

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Iveta Boroňová

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Ivan Bernasovský

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Regina Behulová

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Soňa Mačeková

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Alexandra Bôžiková

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Adriana Sovičová

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Petra Švíčková

• Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Eva Petrejčíková

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Miroslav Soták

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

author

Jarmila Bernasovská

• Excellence Centre of Animal and Human Ecology, Faculty of Humanities and Natural Sciences, University of Prešov, 08116, Prešov, Slovakia

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Identifiers

DOI

10.2478/s11536-010-0067-9