Shafik A, Shafik A A, Shafik I, El Sibai O
Department of Surgery and Experimental Research, Faculty of Medicine, Cairo University, Cairo, Egypt.
Arch Androl. 2006 Jul-Aug;52(4):299-310. doi: 10.1080/01485010600668363.
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.
男性遗传性不育发生在整个生命周期中,从精子携带的遗传特征,到受精和受精后基因组改变,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/精子形成异常。编码正常发育所需蛋白质的基因包括SRY、SOX9、INSL3和LGR8。基因异常影响精子发生,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鉴定出许多与男性生育相关的基因。已经开发了几种技术来测量精子DNA损伤的程度,以便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及其成功结果。现有的精子DNA损伤检测方法在整合到常规临床实践之前,需要进行更多大规模的临床试验。精子DNA的生理/分子完整性是精液质量的一个新参数,也是一个潜在的生育能力预测指标。虽然DNA完整性评估似乎是精子质量的一个合理生物标志物,但临床男科学家并未将其作为精液分析的常规部分进行评估。已经对这些技术进行了广泛的比较研究。然而,其中一些技术需要昂贵的仪器才能进行最佳和无偏分析,劳动强度大,或者需要使用其活性和对DNA断裂的可及性可能不规则的酶。因此,这些技术建议用于基础研究,而不是常规的男科学实验室。