title: The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques.
abstract: OBJECTIVE
  To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia.
  
  
  METHODS
  The common CFTR gene mutations were tested on blood samples from 53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals. Genomic DNA is extracted from the whole blood and the common CFTR mutations have been detected by the amplification refractory mutation system (ARMS) techniques.
  
  
  RESULTS
  The common CFTR mutations were found positive in 5/53)9.43%(for ΔF508 and 4/53)7.55%(for G542X mutation of all patients tested. Also, no CFTR mutations were detected in the normal men.
  
  
  CONCLUSIONS
  The common CFTR mutations were detected in 9/53(17%) infertile men with non-CAVD obstructive azoospermia. Pre-treatment CFTR mutation analysis remains critical to distinguish cystic fibrosis (CF) genotypes for men with non CAVD obstructive azoospermia.
authors: Fars Science and Research branch, Islamic Azad University, Shiraz, Iran. ksafinejad@iaub.ac.ir.
authors: Kyumars
authors: K
authors: Safinejad
authors: Fars Science and Research branch, Islamic Azad University, Shiraz, Iran.
authors: Mojtaba
authors: M
authors: Darbouy
authors: Research & Clinical Centre for Infertility, Shahid Sadoughi Medical Sciences University Yazd, Yazd, Iran.
authors: Sayed Mahdi
authors: SM
authors: Kalantar
authors: Department of Molecular Medicine, Pastor Institute of Iran, Tehran, Iran.
authors: Sirus
authors: S
authors: Zeinali
authors: Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran.
authors: Reza
authors: R
authors: Mirfakhraie
authors: Department of Biology, Faculty of Science, Payam Noor University (PNU), Tehran, Iran.
authors: Leila
authors: L
authors: Yadegar
authors: National Institute of Genetic Engineering and Biotechnology, Tehran, Iran.|Department of Genetic, Special Medical Center, Tehran, Iran.
authors: Masoud
authors: M
authors: Houshmand
mesh_terms: D053713:Azoospermia / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D015995:Prevalence; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA