Literature DB >> 22354660

Unique frequencies of HFE gene variants in Roma/Gypsies.

Dana Gabriková1, Jarmila Bernasovská, Soňa Mačeková, Alexandra Bôžiková, Ivan Bernasovský, Alena Bališinová, Adriana Sovičová, Regína Behulová, Eva Petrejčíková, Miroslav Soták, Iveta Boroňová.   

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.

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Year:  2012        PMID： 22354660     DOI： 10.1007/s13353-012-0088-y

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  37 in total

1.  Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages.

Authors:  L Kalaydjieva; F Calafell; M A Jobling; D Angelicheva; P de Knijff; Z H Rosser; M E Hurles; P Underhill; I Tournev; E Marushiakova; V Popov
Journal:  Eur J Hum Genet       Date:  2001-02       Impact factor: 4.246

2.  N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom.

Authors:  L Kalaydjieva; D Gresham; R Gooding; L Heather; F Baas; R de Jonge; K Blechschmidt; D Angelicheva; D Chandler; P Worsley; A Rosenthal; R H King; P K Thomas
Journal:  Am J Hum Genet       Date:  2000-05-30       Impact factor: 11.025

3.  Global prevalence of putative haemochromatosis mutations.

Authors:  A T Merryweather-Clarke; J J Pointon; J D Shearman; K J Robson
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

4.  The origin and spread of the HFE-C282Y haemochromatosis mutation.

Authors:  S Distante; K J H Robson; J Graham-Campbell; A Arnaiz-Villena; P Brissot; Mark Worwood
Journal:  Hum Genet       Date:  2004-09       Impact factor: 4.132

5.  A newly discovered founder population: the Roma/Gypsies.

Authors:  Luba Kalaydjieva; Bharti Morar; Raphaelle Chaix; Hua Tang
Journal:  Bioessays       Date:  2005-10       Impact factor: 4.345

6.  Prevalence of HFE (hemochromatosis) gene mutations C282Y and H63D in a Romanian population.

Authors:  P-M Voicu; C Cojocariu; E Petrescu-Danila; M Covic; C Stanciu; M Rusu
Journal:  Blood Cells Mol Dis       Date:  2008-10-07       Impact factor: 3.039

7.  HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

Authors:  C Mura; O Raguenes; C Férec
Journal:  Blood       Date:  1999-04-15       Impact factor: 22.113

8.  Screening for haemochromatosis: prevalence among Danish blood donors.

Authors:  P Wiggers; J Dalhøj; H Kiaer; H Ring-Larsen; P H Petersen; O Blaabjerg; M Hørder
Journal:  J Intern Med       Date:  1991-09       Impact factor: 8.989

9.  S65C and other mutations in the haemochromatosis gene in the Czech population.

Authors:  M Cimburová; I Půtová; H Provazníková; D Pintérová; J Horák
Journal:  Folia Biol (Praha)       Date:  2005       Impact factor: 0.906

10.  Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

Authors:  Marko Cukjati; Tomaz Vaupotic; Ruth Rupreht; Vladka Curin-Serbec
Journal:  BMC Med Genet       Date:  2007-11-23       Impact factor: 2.103
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  3 in total

Review 1.  The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.

Authors:  Robert P Erickson; N Avrion Mitchison
Journal:  J Appl Genet       Date:  2014-03-21       Impact factor: 3.240

2.  MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Authors:  Ivica Mašindová; Andrea Šoltýsová; Lukáš Varga; Petra Mátyás; Andrej Ficek; Miloslava Hučková; Martina Sůrová; Dana Šafka-Brožková; Saima Anwar; Judit Bene; Slavomír Straka; Ingrid Janicsek; Zubair M Ahmed; Pavel Seeman; Béla Melegh; Milan Profant; Iwar Klimeš; Saima Riazuddin; Ľudevít Kádasi; Daniela Gašperíková
Journal:  PLoS One       Date:  2015-04-17       Impact factor: 3.240

3.  The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic.

Authors:  Kathleen M Heath; Jacob H Axton; John M McCullough; Nathan Harris
Journal:  Am J Phys Anthropol       Date:  2016-01-22       Impact factor: 2.868
  3 in total

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