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 Delta F508 138 ( 26.2%) and Delta F508/Delta F508 41 ( 15.5%), respectively. The most mortality rate had observed in Delta F508 genotypes. Conclusion - These findings indicate high frequency of consanguinity marriage in this area. A low frequency of the Delta 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.