Hemochromatosis gene mutations in the general population of Slovakia

• Autorzy: Dana Gabriková , Iveta Boroňová , Ivan Bernasovský , Regina Behulová , Soňa Mačeková , Alexandra Bôžiková , Adriana Sovičová , Petra Švíčková , Eva Petrejčíková , Miroslav Soták , Jarmila Bernasovská
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

Hemochromatosis; HFE; Slovakia; Epidemiology

• Czasopismo: Open Medicine
• Rocznik: 2011
• Tom: 6
• Numer: 2
• Strony: 148-151

Daty

wydano

2011-04-01

online

2011-02-17

Twórcy

autor

Dana Gabriková

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

autor

Iveta Boroňová

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

autor

Ivan Bernasovský

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

autor

Regina Behulová

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

autor

Soňa Mačeková

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

autor

Alexandra Bôžiková

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

autor

Adriana Sovičová

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

autor

Petra Švíčková

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

autor

Eva Petrejčíková

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

autor

Miroslav Soták

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

autor

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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Identyfikatory

DOI

10.2478/s11536-010-0067-9