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生精相关基因遗传多态性是生精障碍的一个重要的遗传病因。通过基因敲除技术现已鉴定出大量与精子发生密切相关基因。此类生精障碍基因包括表达酶类、受体类、细胞凋亡类、转录调控类等基因。上述基因的遗传易感性、感染和环境等因素共同作用导致男性非梗阻性无精子症和少精子症。生精障碍相关基因单核苷酸多态性(SNP)分析可从分子水平上阐述生精功能障碍可能的发病机制,为男性不育的临床诊断和治疗提供理论依据。本文对生精障碍相关基因SNP与无精子症、少精子症相关性研究现状进行综述。
Spermatogenesis-related genetic polymorphisms are an important genetic cause of spermatogenic disorders. A large number of genes closely related to spermatogenesis have been identified by gene knockout technology. Such sperm dysfunction genes, including expression of enzymes, receptors, apoptosis, transcriptional regulation and other genes. The gene genetic susceptibility, infection and environmental factors together lead to male non-obstructive azoospermia and oligospermia. Single Nucleotide Polymorphism (SNP) analysis of genes related to spermatogenic disorders can explain the possible pathogenesis of spermatogenic dysfunction at the molecular level and provide a theoretical basis for the clinical diagnosis and treatment of male infertility. This review summarizes the current status of the association between the polymorphisms of spermatogenesis-related disorders and azoospermia and oligospermia.