Analysis of CFTR gene mutations in Iranian non - obstructive azoospermic patients

Background: Genetic factors cause about 10% of male infertility. Cystic fibrosis conductance regulator (CFTR) gene mutations are among relatively frequent causes of male infertility. Therefore, these mutations can cause Cystic fibrosis (CF), which is the most common autosomal recessive disorder, characterized by chronic lung disease, pancreatic exocrine insufficiency, and male infertility. The aim of the present study was to evaluate the effect of CFTR gene mutations in non-obstructive azoospermia. 

Materials and Methods: In this study, we examined the occurrence of common CFTR gene mutations in 106 non obstructive azoospermic patients as test group and 50 fertile individuals as control group. The investigated mutations were ΔF508, G542X, N1303K, W1282X, R117H, also IVS-5T polymorphism, and probable mutations in exons 4, 7, 10, 11, 20 and 21 in the CFTR gene, using ARMS-PCR, PCR-RFLP and SSCP methods. Patient’s samples were collected from Yazd Research & Clinical Centre for infertility, Kowsar Infertility Centre and IVF section of Day Hospital during July 2007 till June 2008.

Results: Thirteen patients (21.26%) showed 406-6T>C, A120T, I148T, ΔF508, 1525-18A>G G542X, L1304M mutations and IVS8-5T polymorphism. To the best of our knowledge, this is the first report on the L1304M mutation worldwide. None of the CFTR gene mutations were observed in the control group. The allelic frequency of IVS8-5T was 3% in controls.

Conclusion: The present study indicates that there is a relationship between CFTR�gene mutations and developing non-obstructive azoospermia. Therefore, the couples undergoing assisted reproductive technologies such as intra cytoplasmic sperm injection (ICSI) are advised to be screened for these gene mutation