生精障碍相关基因单核苷酸多态性研究进展

Single nucleotide polymorphisms of the genes related with spermatogenesis impairment

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。

Male infertility is a complex disease affecting the reproduction of childbearing couples, for which genetic polymorphism of spermatogenesis genes is an important genetic pathogenic factor. Lots of genes closely related with spermatogenesis have been successfully identified through the gene knockout technology. Spermatogenesis impairment related genes include those associated with expression enzymes, receptors, cell apoptosis, transcription regulation, and so on. The genetic susceptibility of these genes, infection, and environment jointly contribute to non-obstructive azoospermia and oligozoospermia in males. The analysis of the single nucleotide polymorphism （SNP） of spermatogenesis impairment related genes helps explain the possible mechanism of pathogenesis at the molecular level, and provides theoretical evidence for the clinical diagnosis and treatment of male infertility. The article focuses on the correlation of the SNPs of spermatogenesis impairment related genes with azoospermia and oligozoospermia.