Cystic Fibrosis (CF) (MIM219700 = entry number of the disease in the catalogue of Mendelian Inheritance in Man) is the most common autosomal recessive disease in the Caucasian population, with a high death rate. CF carrier frequency is estimated between 5-6% of the general Caucasian population, and the frequency of CF patients is approximately 1:2,500 [1]. The disease is caused by molecular alterations in the CF transmembrane conductance regulator (CFTR) gene.

Since the identification of the responsible gene on chromosome 7 [2], more than 950 mutations and a large number of polymorphisms have been reported [3]. Several mutations seem to be associated with specific haplotypes based on extra- and intragenic markers. This association was used to date the origin of the common mutations [4].

In Greece, CF is the second most frequent Mendelian inherited disease after thalassemia. Forty-eight mutations were detected that account for 85.6% of the CF alleles [5]. Since accurate knowledge of CF mutations in a specific subpopulation could provide useful information for special CF programs applicable to prenatal diagnosis and future genetic control of the disease, we present the distribution of 11 known mutations in patients from northern Greece.