en Molecular Genetics & Genomics Molecular Genetics & Genomics مقاله کامل Full Length/Original Article <strong>Background</strong>: Studies&nbsp;have revealed a strong association between mutations of <em>CFTR</em> gene and the congenital bilateral absence of the vas deferens (CBAVD), but the role of this gene in other types of male infertility is still unclear. The&nbsp;purpose of this study was to <em>investigate</em> the frequency of the most common mutations&nbsp;of the&nbsp;<em>CFTR</em> gene (DF508, G542X, N1303K, G551D, and W1282X) in a population of infertile men with nonobstructive azoospermia (NOA) and CBAVD in Iran.&nbsp; <strong>Methods</strong>: Blood samples were obtained from 50 NOA,&nbsp;50 CBAVD, and 100 normal males (control). Genomic DNA was isolated from whole blood leukocytes, and the presence of common mutations of the <em>CFTR</em> gene was assessed by an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Restriction fragment length polymorphism (PCR-RFLP) was also used to analyze IVS8-Tn polymorphism. <strong>Results</strong>: It was found that 16%, 8%, and 8% of <em>patients with CBAVD</em> were heterozygote for DF508, G542X, and N1303K, respectively. The frequency of the 5T allele was 34% and <em>higher than the normal group</em> (<em>p</em> < 0.001). None of the common <em>CFTR</em> gene mutations were detected in NOA patients, and no <em>significant </em>difference was found in the distribution of the 5T&nbsp;<em>allele</em> between the NOA patients and the control group (5 vs. 3 <em>p</em> = 0.721). <strong>Conclusion</strong>: Based on the present case-control study, the <em>CFTR</em> gene mutations and IVS8-Tn polymorphisms are correlated with CBAVD; however, extensive investigations are necessary to determine the exact relationship between the gene mutations and other forms of male infertility. Azoospermia, CFTR, Congenital bilateral absence of the vas deferens, Male Infertility, Mutation 92 98 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-737&slc_lang=en&sid=1 Fatemeh Asadi Yes Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran Reza Mirfakhraie 0000-0003-1709-8975 No Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran Farzaneh Mirzajani No St. Justine Hospital, Montreal University, Montreal, Canada Azam Khedri 0000-0001-9623-1054 No Department of Biochemistry, Faculty of Medicine, Tehran University of Medical Science ,Tehran, Iran