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Journal

2011 | 6 | 2 | 148-151

Article title

Hemochromatosis gene mutations in the general population of Slovakia

Content

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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

Publisher

Journal

Year

Volume

6

Issue

2

Pages

148-151

Physical description

Dates

published
1 - 4 - 2011
online
17 - 2 - 2011

Contributors

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

References

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Document Type

Publication order reference

Identifiers

YADDA identifier

bwmeta1.element.-psjd-doi-10_2478_s11536-010-0067-9
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