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Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia

Authors El Shafae MM, Sabry JH, Behiry EG, Sabry HH, Salim MA, Fayez AG

Received 28 November 2017

Accepted for publication 12 April 2018

Published 19 July 2018 Volume 2018:11 Pages 81—87

DOI https://doi.org/10.2147/TACG.S158297

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Cristina Weinberg

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer


Mohammed M El Shafae,1 Jehan H Sabry,1 Eman G Behiry,1 Hanan H Sabry,2 Mona A Salim,1 Alaaeldin G Fayez3

1Department of Clinical and Chemical Pathology, Benha Faculty of Medicine, Benha University, Benha, Egypt; 2Department of Dermatology, Venereology and Andrology, Benha Faculty of Medicine, Benha University, Benha, Egypt; 3Department of Molecular Genetics and Enzymology, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

Background: The microdeletion events that occur in the Y chromosome-azoospermia factor (AZF) region may lead to dyszoospermia. Also, the deleted azoospermia (DAZ) gene on AZFc and autosomal deleted azoospermia like gene (DAZL) are suggested to represent impairment, so it is interesting to determine the independency pattern of the AZF region and DAZL gene in azoospermic patients.
Aim: To study the molecular characterization of AZFc and DAZL in 64 idiopathic non-obstructed azoospermia patients and 30 sexually reproductive men.
Methods: SYBR Green I (Q-PCR) and AZF-STS analysis was used for DAZ gene, and SNV-PCR and confirmative Sanger sequencing for DAZL gene.
Results: The present study observed that 15.6% had AZFc microdeletion, out of which 10% had DAZ1/2 deletion, and no T54A variant in the DAZL gene was found.
Conclusion: In the current work, the novelty is that spermatogenic impairment phenotype, present with AZFc microdeletions, is independent of the T54A variant in the DAZL gene, and AZFc microdeletions could be a causative agent in spermatogenic impairment.

Keywords: male infertility, azoospermia, AZF, DAZL, deletion

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