与精子DNA断裂/精子染色质生物技术相关的分子男科学。

A Shafik, A A Shafik, I Shafik, O El Sibai
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引用次数: 3

摘要

遗传性男性不育发生在整个生命周期中,从精子携带的遗传性状,到受精和受精后基因组的改变,以及随后囊胚和胎儿的发育变化,以及减数分裂错误和精子发生/精子发生异常。编码正常发育蛋白的基因包括SRY、SOX9、INSL3和LGR8。遗传异常影响精子发生,而多态性影响受体亲和力和激素生物活性。转基因动物模型、人类基因组计划和其他技术已经确定了许多与男性生育能力相关的基因。已经开发了几种技术来测量精子DNA损伤的数量,以确定更客观的参数来评估不育男性。精子DNA的完整性影响夫妇的生育能力,并有助于预测怀孕的机会和成功的结果。现有的精子DNA损伤测试在纳入常规临床实践之前,还需要进行额外的大规模临床试验。精子DNA的生理/分子完整性是精液质量的新参数,也是潜在的生育预测指标。尽管DNA完整性评估似乎是精子质量的一个合乎逻辑的生物标志物,但它并没有被临床男科医生作为精液分析的常规部分进行评估。为了对这些技术进行比较评价,进行了广泛的调查。然而,其中一些技术需要昂贵的仪器来进行最优和公正的分析,是劳动密集型的,或者需要使用活性和对DNA断裂的可及性可能不规则的酶。因此,这些技术被推荐用于基础研究而不是常规的男科实验室。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular andrology as related to sperm DNA fragmentation/sperm chromatin biotechnology.

Genetic male infertility occurs throughout the life cycle from genetic traits carried by the sperm, to fertilization and post-fertilization genome alterations, and subsequent developmental changes in the blastocyst and fetus as well as errors in meiosis and abnormalities in spermatogenesis/spermatogenesis. Genes encoding proteins for normal development include SRY, SOX9, INSL3 and LGR8. Genetic abnormalities affect spermatogenesis whereas polymorphisms affect receptor affinity and hormone bioactivity. Transgenic animal models, the human genome project, and other techniques have identified numerous genes related to male fertility. Several techniques have been developed to measure the amount of sperm DNA damage in an effort to identify more objective parameters for evaluation of infertile men. The integrity of sperm DNA influences a couple's fertility and helps predict the chances of pregnancy and its successful outcome. The available tests of sperm DNA damage require additional large-scale clinical trials before their integration into routine clinical practice. The physiological/molecular integrity of sperm DNA is a novel parameter of semen quality and a potential fertility predictor. Although DNA integrity assessment appears to be a logical biomarker of sperm quality, it is not being assessed as a routine part of semen analysis by clinical andrologists. Extensive investigation has been conducted for the comparative evaluation of these techniques. However, some of these techniques require expensive instrumentation for optimal and unbiased analysis, are labor intensive, or require the use of enzymes whose activity and accessibility to DNA breaks may be irregular. Thus, these techniques are recommended for basic research rather than for routine andrology laboratories.

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