Hemochromatosis gene mutations in the general population of Slovakia
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Dana Gabrikovل1*, Iveta Boroٍovل1, Ivan Bernasovsk1, Regina Behulovل1, Soٍa Maèekovل1, Alexandra Bôikovل1, Adriana Sovièovل1, Petra ٹvیèkovل2, Eva P
- چاپ و سال / کشور: 2010
Description
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
Cent. Eur. J. Med. , 6(2) , 2011 , 148-151 Received 10 May 2010; Accepted 2 November 2010
