title: Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.
abstract: OBJECTIVE
  Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. In the present study, for the first time, we determined the spectrum of CFTR gene mutations in 100 patients with CF originated from the Iranian Azeri Turkish ethnic group.
  
  
  RESULTS
  Here, we report identification of 17 previously known and one novel mutation, namely K1302X, in this cohort. The frequency of deltaF508 mutation was found to be 23%.
  
  
  CONCLUSIONS
  Low frequency of deltaF508 mutation and detection of one novel and 16 known mutations reflect a heterogeneous spectrum of the mutations in this ethnic group.
authors.affiliation: Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran. jabbarpour@tabrizu.ac.ir
authors.forename: Mortaza
authors.initials: M
authors.lastname: Bonyadi
authors.forename: Omid
authors.initials: O
authors.lastname: Omrani
authors.forename: Mandana
authors.initials: M
authors.lastname: Rafeey
authors.forename: Nemat
authors.initials: N
authors.lastname: Bilan
mesh_terms: D001483:Base Sequence; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000208:ethnology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007492:Iran; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D014421:Turkey / Q000208:ethnology
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator