More than 100 sequence polymorphisms have been identified in the CFTR gene thus far. Routine molecular diagnostic methods are aimed at the detection of the most common mutations in the CFTR gene; these do not usually include polymorphisms. Consequently, there is little data about polymorphism frequency in European populations, and there is no data at all for the Yugoslav population. Therefore, the effects of CFTR polymorphisms are not known. Conclusions about their role can be drawn from genotype-phenotype studies. The aim of this study was to determine the frequency of the 2694T/G polymorphism in a healthy Yugoslav population (control group), patients with congenital bilateral absence of vas deferens (CBAVD) and patients with chronic pancreatitis (CP). Frequencies of 2694T and 2694G alleles obtained in the healthy group were 71 and 29%, respectively; these are the first data of CFTR polymorphism frequencies in Yugoslavia. Frequencies of the 2694G allele in CBAVD patients (25%) and CP patients (26%) were similar to the frequency obtained for the healthy population (29%), leading to the conclusion that the presence of this polymorphism is not associated with these CFTR-related monosymptomatic disorders.

Key words: CFTR, DGGE, polymorphism(s).