Relation to the phenotypic features and characterization of the CFTR genomic DNA variants in patients with cystic fibrosis in turkey

Cystic fibrosis (CF) is an autosomal recessive disease that affects many body systems. It is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene is located on chromosome 7 and consisted of 250.000 DNA nucleotids. The CFTR protein also known as ABCC7 acts as a channel protein which control transition of chloride ions to the inside and outside of the cells. The mutations in the CFTR gene can cause changes in the structure of the CFTR protein. In this study, genomic DNA samples taken from healthy (control group=25) individuals were compared with the individuals with CF clinical pre-diagnosis (working group =30) via the using of DNA sequencing method. Mutations in the CFTR gene were detected by whole gene analysis. None of the pathogenic mutations were observed in healthy individuals, however, in the patient group, 26 different mutations have been observed. The most common mutations observed in the patient group and the observation rates were F508del (13.3%), F1052V (13.3%), I148T (10%), R297Q (6.6%), E92K (6.6%) and E632X (6.6%) R74W(3.3%), G126D (3.3%), L183I (3.3%), G178R (3.3%), K174X (3.3%), R347P (3.3%), E379X (3.3% (3.3%), K1165E (3.3%), T1220I (3.3%), S1235R (3.3%), I1270M (3.3%), I807M (3.3%), I982I 3.3%), W1282X (3.3%) and S1426F (3.3%). Also in our study, six novel mutations were first described which are three missense (M472V, K1165E, L1034F), one synonym (I982I) and two stop codons (K174X, E632X) mutations Keywords: Cystic fibrosis, CF, CFTR, Mutation, DNA sequencing.