Talebi Elaheh, Karimian Mohammad, Nikzad Hossein
a Gametogenesis Research Center , Kashan University of Medical Sciences , Kashan , Iran.
b Anatomical Sciences Research Center , Kashan University of Medical Sciences , Kashan , Iran.
Mitochondrial DNA A DNA Mapp Seq Anal. 2018 May;29(4):615-623. doi: 10.1080/24701394.2017.1331347. Epub 2017 May 24.
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.
线粒体DNA（mtDNA）的破坏可能会影响男性生殖功能。本研究的目的是调查线粒体DNA的三种缺失（4977、7345和7599bp）以及两个点突变（A73G和A3243G）与伊朗人群男性不育症之间的关联。在一项病例对照研究中，我们收集了60名不育男性和60名健康对照者的精液样本。分别通过长片段PCR和PCR-RFLP方法检测mtDNA的缺失和点突变。我们的数据显示，4977和7599bp的缺失与男性不育症有关。但是，上述点突变与男性不育症之间没有关联。我们的研究结果表明，mtDNA的4977和7599bp缺失可能是男性不育症的遗传风险因素。然而，这是一项初步研究，目前所呈现的数据是为未来的综合研究提供资料，以便得出这些缺失是男性不育易感性生物标志物的临床结论。
