ABSTRACT

Cystic fibrosis (CF) is the most common autosomal recessive mortal disease in the Caucasians. Its prevalence is 1/2500-3300, and its carrier frequency is 1/20-25. A mutation at the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is also known as chlorine permeable transmembrane channel, results in CF. There is a difference in the distribution of patients between patient groups and regions. This paper aimed to investigate the mutation dispersion in the state of Sanliurfa in patients who have borderline sweat test results or a clinic suspicion of CF.

A total of 40 patients with borderline sweat test results (first group) and 62 patients with clinically suspected CF (second group) were investigated by next-generation sequencing for CFTR gene mutations.

In the first group, 11 heterozygous (27.5%), 1 compound heterozygous (2.5%), and 28 homozygous (70%) mutations were determined. In the second group, 16 heterozygous (25.8%), 3 compound heterozygous (4.8%), and 13 homozygous (21%) mutations were determined. The most frequent mutations were I148T and ΔF508.

Our research concludes that the sweat test is more important than clinical suspicion, and every patient with borderline sweat test should be immediately investigated.

Keywords: Cystic fibrosis, next-generation sequencing, sweat test, mutation