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:: Volume 19, Number 6 (9-2016) ::
amuj 2016, 19(6): 19-26 Back to browse issues page
Analysis of Y Chromosome Microdeletions and Mutation in Exon7 of the STAG3 Gene in Iranian Infertile Men with Idiopathic Non-Obstructive Azoospermia
Sara Pouriamanesh, Ziba Kamalian, Pedram Shafaat, Mona Amin Bidokhti, Nasser Salsabili, Reza Mirfakhraei
Assistant Professor, Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. , reza_mirfakhraie@yahoo.com
Abstract:   (1601 Views)

Background: Azoospermia is defined as the absence of sperm in the semen and is divided in two types; obstructive and non-obstructive azoospermia. Non-obstructive azoospermia include approximately 60% of azoospermia patients. Several genetic and environmental factors can be involved in the development of non-obstructive azoospermia. Until now, several genes have been introduced as the causing factor of the azoospermia that are involved in spermatogenesis and testicular development. These genes are located on Y and/or autosome chromosomes .The aim of the present study was to investigate Y chromosome microdeletions and STAG3 gene mutations in Iranian males with non-obstructive azoospermia.

Materials and Methods: In this study, peripheral blood samples were obtained from 122 men with idiopathic non-obstructive azoospermia and 100 Normo-sperm men who had at least one child and DNA was extracted. Samples were investigated for the presence of Y chromosome microdeletions by Multiplex PCR. Then, existence of probable mutations in exon 7 of STAG3 gene was investigated using MSSCP (multi-temperature single-strand conformational polymorphism) method.

Results: 13 patients (10.66%) had Y chromosome microdeletions, but none of the subjects showed mutation in exon 7 of STAG3 gene. The Y chromosome microdeletions were found in none of the control individuals.

Conclusion: The results showed that Y chromosome microdeletions are the most important cause of non-obstructive azoospermia and should be considered as the main candidate for male infertility diagnostic tests. Mutations in the STAG3 gene are not common among non-obstructive azoospermia patients.

Keywords: Microdeletion, Y Chromosome, Azoospermia, Mutation, STAG3.
Full-Text [PDF 788 kb]   (436 Downloads)    
Type of Study: Original Atricle | Subject: Basic Sciences
Received: 2016/04/20 | Accepted: 2016/06/15 | Published: 2016/08/21
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Pouriamanesh S, Kamalian Z, Shafaat P, Amin Bidokhti M, Salsabili N, Mirfakhraei R. Analysis of Y Chromosome Microdeletions and Mutation in Exon7 of the STAG3 Gene in Iranian Infertile Men with Idiopathic Non-Obstructive Azoospermia. amuj. 2016; 19 (6) :19-26
URL: http://amuj.arakmu.ac.ir/article-1-4370-en.html
Volume 19, Number 6 (9-2016) Back to browse issues page
مجله دانشگاه علوم پزشکی اراک Arak Medical University Journal
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