Nabi Ali, Khalili Mohammad Ali, Moshrefi Mojgan, Sheikhha Mohammad Hasan, Zare Mehrjardi Ehsan, Ashrafzadeh Hamid Reza
Research and Clinical Center for Infertility, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Reproductive Biology, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Int J Reprod Biomed. 2018 Jun;16(6):379-386.
Asthenozoospermia is one of the etiologies for male factor infertility. It was shown that any abnormality in protamines genes, reduction of protamines transcript and protamines deficiency may play a key role in asthenozoospermia.
The aim of the current study was the evaluation of protamine-1 and 2 genes ( and ) polymorphisms in asthenozoospermic men.
In this case-control study, the samples were corresponded to asthenozoospermic specimens of infertile men. The normozoospermic samples were considered as the control group. DNA sequence amplification was performed using four PRM1 and PRM2 primers, designed from 5' to 3' flank regions. The human and gene sequences were screened in search of potential mutations in highly prevalent polymorphism regions in asthenozoospermia versus normozoospermia.
Totally, nine highly prevalent polymorphism regions between the forward and reverse primers were screened. Three of them corresponded to and six to . The most prevalent polymorphism regions in were related to 102G>T (rs35576928), 49C>T (rs140477029) and 139C>A (rs737008). In the , 6 highly prevalent polymorphisms regions were screened, including 248C>T (rs779337774), 401G>A (rs545828790), 288C>T (rs115686767), 288G>C (rs201933708), 373C>A (rs2070923), and 298G>C (rs1646022). The allele frequencies of three upper mentioned single nucleotide polymorphisms in asthenozoospermic men including 373C>A, 298G>C and 139C>A was higher than the control group.
Our findings indicated that the frequency of some altered genotypes in asthenozospermia was slightly higher than control group. We proposed more extensive studies to be sure that; these genotypes can precisely be related to diagnosis of asthenozoospermia, as the molecular markers.
弱精子症是男性因素不育的病因之一。研究表明，鱼精蛋白基因的任何异常、鱼精蛋白转录本减少和鱼精蛋白缺乏可能在弱精子症中起关键作用。
本研究旨在评估弱精子症男性中鱼精蛋白-1和2基因（ 和 ）的多态性。
在本病例对照研究中，样本对应于不育男性的弱精子症标本。正常精子标本作为对照组。使用从5'到3'侧翼区域设计的4条PRM1和PRM2引物进行DNA序列扩增。对人类 和 基因序列进行筛选，以寻找弱精子症与正常精子症中高发性多态性区域的潜在突变。
总共筛选了正向和反向引物之间的9个高发性多态性区域。其中3个对应于 ，6个对应于 。 中最常见的多态性区域与102G>T（rs35576928）、49C>T（rs140477029）和139C>A（rs737008）有关。在 中，筛选出6个高发性多态性区域，包括248C>T（rs779337774）、401G>A（rs545828790）、288C>T（rs115686767）、288G>C（rs201933708）、373C>A（rs2070923）和298G>C（rs1646022）。弱精子症男性中上述3个单核苷酸多态性的等位基因频率，包括373C>A、298G>C和139C>A，高于对照组。
我们的研究结果表明，弱精子症中一些改变的基因型频率略高于对照组。我们建议进行更广泛的研究以确定；这些基因型是否可以作为分子标记物与弱精子症的诊断精确相关。
