The analysis of some CFTR gene mutations in a small group of CF patients from Southern part of Romania

Cystic fibrosis is the most common hereditary disease in European descendant populations, with prevalence depending on ethnic groups studied. In contrast to other European countries, there is little information regarding the frequency of CFTR mutations for the Southern part of Romania. The aim of this study was to test the presence of nine CFTR mutations in CF patients from the Southern part of Romania, using complementary analysis methods. We investigated a group of unrelated CF patients (n=19) and, when possible, their voluntary parents (n=15). We observed that the most frequently worldwide CF mutation, ∆F508, was present in 17 of our patients (89.5%) in homozygous (n=7) or heterozygous (n=10) condition and absent in 2 cases (10.5%). This mutation was also detected in ten parents, seven of them (100%) have homozygous children and three (37.5%) have heterozygous children for ∆F508 mutation. None of the G542X, S549N, G551D, R553X, R560T, S1255X, W1282X and N1303K mutations have been detected in the samples from patients or parents. Our results are partially similar with those reported in neighbouring countries where the ∆F508 is the most common mutation detected and the frequency of R560T, S549N, G551D and S1255X mutations is near zero. The enlargement of this study could give a better result regarding the spectrum of CFTR mutations in Romanian patients with CF.