Özet:

Objective: Cystic Fibrosis (CF) is the first among the autosomal reef inherited lethal diseases in the Caucasian race, with a carrier frequency of 1/20-25 and an incidence of 1/2500-3300. CF is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, also known as the chloride-permeable transmembrane channel. The distribution rates of mutations differ between patient groups and regionally. In this study, individuals with suspected sweat test and clinical pre-diagnosis of CF in Şanlıurfa province were examined in terms of mutation distributions. Methods: Forty patients with suspicious sweat test results and 62 patients with clinical pre-diagnosis of CF were evaluated in terms of CFTR gene mutations with the new generation sequencing method. The findings: 40 individuals in the patient group that were suspicious of the result of the thirst test; 11 individuals were heterozigot (27,5%), 1 individual was compound-heterozigot (2,5%) and 28 individuals were homozigot (70%) mutations. The clinical pre-diagnosis of 62 individuals included in the KF group; 16 individuals were heterozigot (25.8%), 3 individuals composed heterozigot (4.8%) and 13 individuals were homozigot (21%) mutations. The most frequently observed mutations were I148T and ΔF508. The result: Our study shows that both the diagnostic value of the tear test is more important than the clinical assessment and that individuals who are suspicious of the result of the tear test should be investigated without losing time.

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