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Mitochondrial DNA Part A
DNA Mapping, Sequencing, and Analysis
Volume 29, 2018 - Issue 4
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Research Article

Association of sperm mitochondrial DNA deletions with male infertility in an Iranian population

, &
Pages 615-623 | Received 28 Mar 2017, Accepted 13 May 2017, Published online: 24 May 2017
 

Abstract

Disruptions of mitochondrial DNA (mtDNA) may affect male reproductive function. The aim of this study was to investigate the association of three deletions (4977, 7345 and 7599 bp) and two-point mutations (A73G and A3243G) of mitochondrial DNA with male infertility in an Iranian population. In a case-control study, we collected semen samples of 60 infertile men and 60 healthy controls. Detection of the mtDNA deletions and point mutations were performed by long range PCR and PCR-RFLP method, respectively. Our data revealed that 4977 and 7599 bp deletions are associated with male infertility. But, there was no association between mentioned point mutations and male infertility. Our findings suggested that 4977 and 7599 bp deletions of mtDNA may be genetic risk factors for male infertility. However, it is a preliminary study and is presenting data for future comprehensive study for making a clinical conclusion that these deletions are biomarkers for susceptibility to male infertility.

Disclosure statement

The authors declare no conflict of interest. This study was supported by Kashan University of Medical Sciences (Grant no. 93187).

Additional information

Funding

This study was supported by Kashan University of Medical Sciences (Grant no. 93187).

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