Iranian Biomedical Journal
مجله بیومدیکال ایران
IBJ
Basic Sciences
http://ibj.pasteur.ac.ir
1
admin
1028-852X
2008-823X
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10.61186/ibj
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8888
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en
jalali
1397
12
1
gregorian
2019
3
1
23
2
online
1
fulltext
en
A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population
Molecular Genetics & Genomics
Molecular Genetics & Genomics
مقاله کامل
Full Length/Original Article
<strong>Background</strong>: Studies 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 purpose of this study was to <em>investigate</em> the frequency of the most common mutations of the <em>CFTR</em> gene (DF508, G542X, N1303K, G551D, and W1282X) in a population of infertile men with nonobstructive azoospermia (NOA) and CBAVD in Iran. <strong>Methods</strong>: Blood samples were obtained from 50 NOA, 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 <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
100319475328460054873
100319475328460054873
Yes
Department of Molecular Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
Reza
Mirfakhraie
100319475328460054874
100319475328460054874
No
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Farzaneh
Mirzajani
100319475328460054875
100319475328460054875
No
St. Justine Hospital, Montreal University, Montreal, Canada
Azam
Khedri
100319475328460054876
100319475328460054876
No
Department of Biochemistry, Faculty of Medicine, Tehran University of Medical Science ,Tehran, Iran