title: Unique frequencies of HFE gene variants in Roma/Gypsies.
abstract: The aim of this study was to assess the frequencies of three hemochromatosis gene (HFE) mutations in ethnic Roma/Gypsies in Slovakia. A cohort of 367 individuals representing general population and not preselected for health status was genotyped by TaqMan real-time PCR assay for C282Y, H63D and S65C mutations in HFE gene. A unique genetic profile was revealed: C282Y is found in the highest frequency of all Central European countries (4.90%), while the frequency of H63D mutation (4.09%) is lower than any reported in Europe so far. S65C mutation was not present in the cohort. These mutation frequencies can be explained rather by gene influx and genetic isolation than by genetic inheritance from a former Roma/Gypsy homeland.
authors.affiliation: Department of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Ul. 17. Novembra 1, 081 16 Prešov, Slovakia. dana.gabrikova@yahoo.com
authors.forename: Dana
authors.initials: D
authors.lastname: Gabriková
authors.forename: Jarmila
authors.initials: J
authors.lastname: Bernasovská
authors.forename: Soňa
authors.initials: S
authors.lastname: Mačeková
authors.forename: Alexandra
authors.initials: A
authors.lastname: Bôžiková
authors.forename: Ivan
authors.initials: I
authors.lastname: Bernasovský
authors.forename: Alena
authors.initials: A
authors.lastname: Bališinová
authors.forename: Adriana
authors.initials: A
authors.lastname: Sovičová
authors.forename: Regína
authors.initials: R
authors.lastname: Behulová
authors.forename: Eva
authors.initials: E
authors.lastname: Petrejčíková
authors.forename: Miroslav
authors.initials: M
authors.lastname: Soták
authors.forename: Iveta
authors.initials: I
authors.lastname: Boroňová
mesh_terms: D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006432:Hemochromatosis / Q000208:ethnology / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D059645:Mutation Rate; D060888:Real-Time Polymerase Chain Reaction; D006178:Romani People; D018154:Slovakia / Q000453:epidemiology; D044465:White People
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins