CFTR MUTATIONS IN NORTHERN GREECE. HIGH FREQUENCY OF MUTATION 621+1 (G->T)
Kalogeridis A1,2, Kouvatsi A1, Tsanakas I2
*Corresponding Author: Dr. Anastasia Kouvatsi, Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece; Tel: +30310- 998361; Fax: +30310-998374; E-mail: akouvats@bio.auth.gr
page: 11

DISCUSSION

Significant regional differences in CF mutations among affected individuals have been found in different countries, e.g., France [16], Italy [17], the Netherlands [18]. Therefore, knowledge of the spectrum of mutations causing CF in any specific geographic region provides useful information for future screening of the disease.

With regard to Greece, previous studies have been carried out in the Greek population as a whole [5,19]. The present study was concerned with CF patients from northern Greece, and it revealed that 11 mutations account for 80.1% of the mutant alleles in this area. The frequency of the DF508 (56.06%) and the other less common mutations, were similar to those found by other Greek authors [5,19].

Only the 621+1 (GT) mutation was found with a frequency of 12.12%, significantly higher than the 4.6 and 5.5% found in previous reports from Greece (c2 = 10.2 and c2 = 9.5, p<0.05 from [5,19], respectively). The frequency of 621+1 (GT) in northern Greece represents the highest value reported for Europeans [3]. The pooled data from all the studied European populations, reported by the CF Consortium, gives a frequency of about 0.54%, while its frequency from different geographic regions does not exceed 4.6% [3]. This mutation was not found in the countries neighboring Greece, namely Turkey, Bulgaria and Albania, while in the Former Yugoslav Republic of Macedonia and Italy it was found in very low frequencies, 1.08 and 0.46%, respectively [3].

The haplotype homogeneity found for 621+1 (GT) chromosomes in this study allows us to suggest that this mutation arose from a single mutational event in northern Greece, and its high frequency is likely to be due to a founder effect.

Worldwide, this mutation was detected at a high frequency (12.8%) only in the Saguenay-Lac St. Jean region of Quebec in Canada [20]. One of the probable explanations for the high frequency of the 621+1 (GT) mutation in that region of Canada could be attributed to the large number of immigrants from northern Greece to that country during the first few decades of the 20th century.




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