Molecular and Bioinformatic Analysis of CFTR Gene Mutations in Azerbaijani Patients with Cystic Fibrosis

This study identified five CFTR (Cystic Fibrosis Transmembrane Regulator gene) gene mutations, which show high-frequency significance.We set a goal to study CFTR gene mutations in a population of the Azerbaijan Republic.Between 2015 and 2020, 1,344 (1,144 experimental and 200 control group) individuals from the Baku, Sheki-Zagatala, Guba-Khachmaz, and Lankaran-Astara zones of Azerbaijan participated in this study.A family study was conducted to identify cases similar to those with cystic fibrosis.Of these, only 18 patients in the experimental group were found to have various mutations in the CFTR gene.Sweat tests were done.To address the task at hand, we employed the molecular-genetic method.Blood samples of patients diagnosed with cystic fibrosis were analyzed using exome and Sanger sequencing.We found 5 mutations for the CFTR gene.They are as follows: Phe508del, R117H, R334W, R553X, VS8-5T and L322P (novel mutation).We were the first to describe mutation L322P (965 T>C (Leu322Pro)) in Azerbaijan, which has no reference sequence results in NCBI.Thus, in the studied samples, two mutations-R334W and L322P-were found in exon 4 of the CFTR gene, one new mutation (L322P) in exon 7, the F508 mutation in exon 10, and the R553X mutation in exon 11.The protein structure was analyzed using the Swiss Model program (www.swiss-prot.org).The novel L322P mutation, detected in exon 7 of the CFTR gene, was accompanied by the substitution of thymine with cytosine at position 965 of the gene, substituting leucine with proline in the protein structure.A novel mutation was detected in 1 patient from 1344 samples.Early molecular genetic screening of newborns is essential for preventing cystic fibrosis.In this regard, our research is of great importance.