[Genetically Determined and Functional Human Sperm Motility Decrease].

Ontogenez Pub Date : 2016-09-01
E E Bragina, E A Arifulin, E P Senchenkov
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Abstract

Motility is the most important property of mammalian sperm required for fertilization. Axoneme and axoneme surrounding tail components are the morphological substrate of sperm motility. Quantitative research methods of human spermatozoa motility allowed the definition of the normative parameters for fertile men. Exogenous factors, and, rarely, genetic defects may cause a significant reduction in sperm motility. Axonemal anomalies (absence of external and/or internal dynein arms, central pair of microtubules absence) may be the cause of primary ciliary dyskinesia (PCD). PCD—a severe systemic disease of the reduction of sperm motility—is just one symptom. Dysplasia of the fibrous sheath (DFO) is also genetically determined sperm motility decrease. PCD and the DFO are multigene diseases that are inherited in an autosomal recessive manner. Modern molecular biological research methods are used to identify candidate genes. Assisted reproduction technologies (ART) allow men suffering from PCD and DFO to produce offspring. PCD and DFO symptoms appear in the homozygote. Children born after ART have the probability of being mutation carriers. We do not have complete information about etiological factor of genetically determined spermpathology. So we cannot assess the genetic risk degree. However, the possibility of mutations accumulation, which can be a risk factor for distant offspring, should be considered.

[基因决定和功能性人类精子活力下降]。
能动性是哺乳动物精子受精所必需的最重要的特性。轴突和尾组分周围的轴突是精子运动的形态基质。人类精子运动的定量研究方法允许对精子的规范参数进行定义。外源性因素,以及罕见的遗传缺陷可能导致精子活力显著降低。轴突异常(缺乏外部和/或内部动力臂,中央微管对缺失)可能是原发性纤毛运动障碍(PCD)的原因。pcd——一种严重的精子活力降低的全身性疾病——只是其中一种症状。纤维鞘发育不良(DFO)也是由基因决定的精子活力下降。PCD和DFO是常染色体隐性遗传的多基因疾病。采用现代分子生物学研究方法鉴定候选基因。辅助生殖技术(ART)允许患有PCD和DFO的男性生育后代。纯合子出现PCD和dfo症状。接受抗逆转录病毒治疗后出生的孩子有可能成为突变携带者。我们没有关于遗传决定的精子病理病因的完整信息。因此,我们无法评估遗传风险程度。然而,应该考虑到突变积累的可能性,这可能是远缘后代的一个危险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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