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Acta Myol. 2009 July; 28(1): 44.
PMCID: PMC2859657

P-2. Friedreich’s ataxia carrier screening in the population originating from the Paphos district of Cyprus

A cluster of Friedreich’s ataxia (FRDA) patients has been identified in two neighbouring villages of the Paphos district of Cyprus and has been reporter by Dean, Chamberalin and Middleton (1988). The frequency of carriers within the two villages was estimated to be 1 in 5 to 1 in 6. These and additional patients originating from the Paphos district of Cyprus have been studied at the molecular genetic level. All Cypriot patients had a homozygous expansion of the GAA trinucleotide repeat in the first intron of the frataxin gene. In order to better estimate the frequency of FRDA mutation carriers in the population of the Paphos district, we initiated a screening program based on volunteer participation. The program was carried out for 18 months and it included: a) preparation of a leaflet with the relevant facts about FRDA and its high prevalence in the region, b) many field trips for organised talks at city/village centres and blood collection and c) genetic counseling sessions at hospitals. One thousand and fifty individuals, above the age of 18 years old, originating from the Paphos district of Cyprus participated in the program after signed concent. Analysis of the GAA triplet repeat revealed that ninety-eight of the individuals were heterozygous carriers of the expansion accounting for 9.33% of the sample. Thus, the estimated frequency of FRDA mutation carriers in the greater region of the Paphos district of Cyprus is 1 in 11 to 1 in 10 individuals. This project has been supported by UNOPS.


Articles from Acta Myologica are provided here courtesy of Pacini Editore