Genetic pattern of cystic fibrosis patients in Azeri Turkish population

Abstract

Objective ― This study was designed to analyze the genetic pattern of cystic fibrosis and effects on age, sex and mortality in the Azeri Turkish population in Iran. Material and Methods ― This study was a descriptive study that was conducted for cystic fibrosis patients in Azeri Turkish population in Iran from 2001 to 2014. Of 331 patients, the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in 263 patients was reviewed. Demographic and genetic data of patients were summarized by descriptive analysis as frequency, percentage, mean and median. Results ― The frequency consanguineous marriages was 196 (59.2%) positive and 135 (40.8%) negative with a significant difference (P=0.001). We identified 32 known mutations and 74 kinds of genotypes. The most common mutation and genotype were ∆F508 138 (26.2%) and ∆F508/ ∆F508 41 (15.5%), respectively. The most mortality rate had observed in ∆F508 genotypes. Conclusion ― These findings indicate high frequency of consanguinity marriage in this area. A low frequency of the ∆F508 mutation and detection 32 mutations reflect a heterogeneous spectrum of the mutations in this ethnic group. Further examinations are necessary on CFTR gene and affect these items on on age, sex and mortality.