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CC BY 4.0 · AIMS Genet 2017; 04(04): 202-212
DOI: 10.3934/genet.2017.4.202
Research Article

High frequency of microdeletion in TTY2 gene family in peripheral blood leukocytes of non-obstructive azoospermia patients

Farideh Zonozi
1   Department of Genetics, Islamic Azad University, Damghan Branch, Damghan, Iran
,
Hossein Mozdarani
2   Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
,
Mahdieh Salimi
3   Department of Medical Genetics, Medical Biotechnology Institute, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
,
Sohail Mozdarani
4   Cytogenome Medical Genetics Laboratory, Chamran Medical Building, Ale-Ahmad Highway, Tehran, Iran
,
Parvin Fallahi
5   Infertility Center, Shariati Hospital, Tehran, Iran
,
Sahar Mozdarani
4   Cytogenome Medical Genetics Laboratory, Chamran Medical Building, Ale-Ahmad Highway, Tehran, Iran
,
Zahra Heidari
4   Cytogenome Medical Genetics Laboratory, Chamran Medical Building, Ale-Ahmad Highway, Tehran, Iran
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Abstract

About 10–15% of non-obstructive azoospermia (NOA) patients show AZFc microdeletion in their blood leukocytes. However, if AZF genes were involved in impaired spermatogenesis, a higher frequency of chromosomal microdeletions was expected. In this study the frequency of AZFc microdeletion was compared with TTY2 gene family, i.e., TTY2A2A and TTY2A12A in blood leukocytes of NOA patients and normal fertile control. In the present study 30 normal fertile individuals with mean age of 35.0 ± 6.0 and 30 NOA patients with mean age of 34.0 ± 7.0 were screened for microdeletion of TTY2L2A and TTY2L12A at Yq11 and Yp11 respectively and sequence-tagged site (STS) markers for AZFc gene using multiplex PCR technique. At the first step karyotyping was done for all subjects using standard G-banding technique to identify patients with normal karyotype as well as non-affected normal controls for molecular analysis.

Results showed no AZFc microdeletion in normal and NAO patients whereas one TTY2L2A microdeletion in normal control (3.3%) and 4 in NOA (13.3%) was observed (p < 0.05). However our data indicated that 6 of 30 NOA patients (20%) showed TTY2L12A microdeletion whereas there was no observed microdeletion in normal control (p < 0.01).

Results indicate that the studied genes might be involved in impaired spermatogenesis more effective than the routinely screened AZF genes in infertile men. Therefore, screening these genes along with AZF genes might be valuable for infertile patients. The reason why these genes are deleted from Y chromosome is not known but might be associated with genomic instability induced by environmental physico-chemical genotoxic agents.

Keywords

non-obstructive azoospermia - Y-chromosome microdeletion - AZFc - TTY2 genes


Publication History

Received: 20 August 2017

Accepted: 22 November 2017

Article published online:
10 May 2021

© 2017. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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