Genetic variants of Cystic Fibrosis disease in Azeri Turkish population

Backgrounds: Cystic fibrosis is the most common lethal autosomal recessive with more than۱,۵۰۰ mutations and ۳۰۰ polymorphisms. The aim of this study was to investigate the geneticvariants in patients with cystic fibrosis disease in the Azeri Turkish population.Materials and Methods: In a descriptive study conducted for cystic fibrosis patients in theAzeri Turkish population in Iran from ۲۰۱۵ to ۲۰۲۰, the spectrum of cystic fibrosistransmembrane conductance regulator (CFTR) mutations was reviewed based on medicalrecords. In some patient’s DNA testing has been carried out with standard kits that test only alimited number of common variants and others performed DNA analyses of the whole gene untilthe variants were identified.Results: Out of ۲۶۲ patients, ۳۶ known variants were identified when the ΔF۵۰۸ (۱۹.۸۴%) wasthe most common mutation among patients. The variant of ۱۶۷۷delTA was observed in ۳% ofpatients which was followed by variants of R۳۳۴W, ۲۱۸۳AA->G, E۹۲K, and G۵۴۲X withfrequency ۵ (۲.۲%). The frequency of other variants was very low. Most variants were related toexons ۸ and ۱۱ and included for all ۵ classes.Conclusion: These findings indicate a low frequency of the ΔF۵۰۸ mutation and aheterogeneous spectrum of the mutations in this ethnic group. Therefore, many exons need to beexamined to diagnose this disease.

کلیدواژه ها:

Cystic fibrosis ، CFTR ، Variants ، ΔF۵۰۸ ، Spectrum