Unique frequencies of HFE gene variants in Roma/Gypsies

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...

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Bibliographic Details
Published in:Journal of applied genetics 2012-05, Vol.53 (2), p.183-187
Main Authors: Gabrikova, Dana, Bernasovska, Jarmila, MacEkova, Sona, Bozikova, Alexandra, Bernasovsky, Ivan, Balisinova, Alena, Sovicova, Adriana, Behulova, Regina, Petrejcikova, Eva, Sotak, Miroslav
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Biomedical and Life Sciences
Genes
Genetic aspects
Genetic isolation
Genetic research
Hemochromatosis
Heredity
HFE protein
Human Genetics
Human Genetics • Original Paper
inheritance (genetics)
Life Sciences
Microbial Genetics and Genomics
Mutation
Plant Genetics and Genomics
Polymerase chain reaction
quantitative polymerase chain reaction
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Summary: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.
ISSN:1234-1983
2190-3883
DOI:10.1007/s13353-012-0088-y