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4977 个碱基对的人类线粒体 DNA 缺失与约旦弱精症不育有关。

4,977-bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan.

机构信息

Department of Basic Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.

Department of Biological Sciences, Faculty of Science, Yarmouk University, Irbid, Jordan.

出版信息

Andrologia. 2020 Feb;52(1):e13379. doi: 10.1111/and.13379. Epub 2019 Nov 20.

Abstract

Male infertility is commonly associated with sperm abnormalities including asthenozoospermia. The molecular basis of asthenozoospermia was linked to mitochondrial DNA (mtDNA) mutations. The 4,977-bp human mtDNA deletion is one of the most common mutations of spermatozoa and results in loss of about 33% of the mitochondrial genome. In this preliminary study, we aimed to investigate the presence of 4,977-bp mtDNA deletion in asthenozoospermic infertile men in Jordan. Semen specimens of 120 asthenozoospermic infertile men and 80 normozoospermic individuals were collected at the in vitro fertilization unit. MtDNA was extracted after the enrichment of spermatozoa; then, polymerase chain reaction was performed using 4,977-bp mtDNA deletion-specific primers. The deletion of 4,977-bp mtDNA was detected in 79.2% of asthenozoospermic patients compared to 10% in normozoospermic controls. The results showed a significant association between the presence of 4,977-bp mtDNA deletion and the asthenozoospermia and infertility (OR = 34.2000, 95% CI = 14.57-80.26, p-value < .001). In conclusion, our findings underscored a strong association between 4,977-bp mtDNA deletion and asthenozoospermia in the Jordanian population.

摘要

男性不育症通常与精子异常有关,包括弱精症。弱精症的分子基础与线粒体 DNA(mtDNA)突变有关。4977bp 人类 mtDNA 缺失是精子最常见的突变之一,导致线粒体基因组约 33%的丢失。在这项初步研究中,我们旨在研究 4977bp mtDNA 缺失在约旦弱精症不育男性中的存在情况。在体外受精单位收集了 120 名弱精症不育男性和 80 名正常精子男性的精液标本。富集精子后提取 mtDNA;然后,使用 4977bp mtDNA 缺失特异性引物进行聚合酶链反应。与正常精子对照组的 10%相比,弱精症患者中 4977bp mtDNA 缺失的检出率为 79.2%。结果表明,4977bp mtDNA 缺失的存在与弱精症和不育症之间存在显著相关性(OR=34.2000,95%CI=14.57-80.26,p 值<.001)。总之,我们的研究结果强调了 4977bp mtDNA 缺失与约旦人群弱精症之间的强烈关联。

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