Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Acta Myol. 2009 Jul;28(1):24-6.
A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the frataxin gene. The present study is aimed at estimating the mutation carrier frequency in the broader area of Paphos. Overall, 1050 individuals originating from the Paphos district took part in the programme. Blood samples were collected for a period of 18 months, on a voluntary basis, after signing a consent form, and analysis of the GAA triplet repeat was performed. The frequency of mutation carriers in the broader area of the Paphos district, and excluding the two neighbouring cluster villages, is estimated to be high. We recommend that an organized prevention programme be implemented to cover the population from this region.
此前，在塞浦路斯帕福斯区的两个相邻村庄对一群弗里德赖希共济失调患者进行了调查。分子遗传学研究表明，所有患者都有最常见的突变，即铁调素基因第一内含子中GAA三联体重复序列的纯合扩增。本研究旨在估计帕福斯更广泛地区的突变携带者频率。总体而言，来自帕福斯区的1050人参与了该项目。在签署同意书后，在18个月的时间里自愿采集血样，并对GAA三联体重复序列进行分析。据估计，在帕福斯区更广泛的地区，不包括两个相邻的聚集村庄，突变携带者的频率很高。我们建议实施一项有组织的预防计划，以覆盖该地区的人口。
