Ebrahim Abadi Zeinab, Khademi Bami Maryam, Golzadeh Maryam, Kalantar Seyed Mehdi, Sheikhha Mohammad Hasan
Department of Medical Genetics, Medical Faculty, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Iran.
Int J Reprod Biomed. 2018 Aug;16(8):491-496.
Tumor protein () is a tumor suppressor transcriptional regulator protein which plays a critical role in the spermatogenesis. One of the most important regulators of p53 is Murine double minute 2 (), which acts as a negative regulator of the p53 pathway. Based on the key role of p53 and in germ cell apoptosis, polymorphisms that cause a change in their function might affect germ cell apoptosis and the risk of male infertility.
This study was designed to examine associations of 72 Arg>Pro (rs1042522), and 309 T>G (rs937283) polymorphisms with spermatogenetic failure in Iranian population.
A case-control study was conducted with 150 nonobstructive azoospermia or severe oligozoospermia and 150 fertile controls. The two polymorphisms, 72 Arg>Pro in and 309 T>G in , were genotyped using PCR-RFLP and ARMS-PCR respectively.
Our analyses revealed that the allele and genotype frequencies of the R72P polymorphism were not significantly different between the cases and controls (p=0.41, p=0.40 respectively). Also, no significant differences were found in the allelic (p=0.46) and genotypic (p=0.78) distribution of 309 T>G polymorphism between patients and controls.
The results of this study indicate that polymorphisms of and genes are unlikely to contribute to the pathogenesis of male infertility with spermatogenetic failure.
肿瘤蛋白()是一种肿瘤抑制转录调节蛋白,在精子发生过程中起关键作用。p53最重要的调节因子之一是小鼠双微体2(),它作为p53通路的负调节因子。基于p53和在生殖细胞凋亡中的关键作用,导致其功能改变的多态性可能会影响生殖细胞凋亡和男性不育风险。
本研究旨在检测伊朗人群中72 Arg>Pro(rs1042522)和309 T>G(rs937283)多态性与精子发生失败的相关性。
进行一项病例对照研究,纳入150例非梗阻性无精子症或严重少精子症患者及150例生育力正常的对照者。分别采用PCR-RFLP和ARMS-PCR对p53基因72 Arg>Pro和MDM2基因309 T>G这两种多态性进行基因分型。
我们的分析显示,病例组和对照组之间p53基因R72P多态性的等位基因和基因型频率无显著差异(分别为p = 0.41,p = 0.40)。此外,患者和对照组之间MDM2基因309 T>G多态性的等位基因(p = 0.46)和基因型(p = 0.78)分布也无显著差异。
本研究结果表明,p53和MDM2基因多态性不太可能导致男性精子发生失败性不育的发病机制。