• PMID: 21976147
• Gene Name: CFTR
• Condition: Male infertility, CAVD obstructive azoospermia
• Association: Associated
• Population size: 103
• Population details: 103 (53 infertile men with non-CAVD obstructive azoospermia and 50 normal men as control individuals)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility, CAVD obstructive azoospermia

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques

Safinejad K, Darbouy M, Kalantar SM, Zeinali S, Mirfakhraie R, Yadegar L, Houshmand M.

PURPOSE: 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. CONCLUSION: 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. FAU - Safinejad, Kyumars AU - Safinejad K AD - Fars Science and Research branch, Islamic Azad University, Shiraz, Iran. ksafinejad@iaub.ac.ir. FAU - Darbouy, Mojtaba AU - Darbouy M AD - Fars Science and Research branch, Islamic Azad University, Shiraz, Iran. FAU - Kalantar, Sayed Mahdi AU - Kalantar SM AD - Research & Clinical Centre for Infertility, Shahid Sadoughi Medical Sciences University Yazd, Yazd, Iran. FAU - Zeinali, Sirus AU - Zeinali S AD - Department of Molecular Medicine, Pastor Institute of Iran, Tehran, Iran. FAU - Mirfakhraie, Reza AU - Mirfakhraie R AD - Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran. FAU - Yadegar, Leila AU - Yadegar L AD - Department of Biology, Faculty of Science, Payam Noor University (PNU), Tehran, Iran.