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男性不育症是一种复杂的多基因疾病,Y染色体上的一些遗传变异已被证明与男性不育有关,比如雄激素受体基因突变、Y染色体上AZF缺失等。目前国外有学者报道了一种新的基因—TSPY1基因拷贝数变异与男性不育之间的关联,但实验研究较少,国内尚无这方面的报道。本文综述了TSPY1基因的结构、功能、其拷贝数与男性不育之间的关联以及TSPY1拷贝数影响男性不育的可能机制,为临床上诊断男性不育提供新的线索和思路。
Male infertility is a complex polygenic disease. Some genetic variations in the Y chromosome have been shown to be associated with male infertility, such as androgen receptor mutations and AZF deletion on the Y chromosome. At present, foreign scholars have reported a new gene-TSPY1 gene copy number variation associated with male infertility, but less experimental study, there is no report in this area. This review summarizes the relationship between TSPY1 gene structure and function, its copy number and male infertility, and the possible mechanism of TSPY1 copy number affecting male infertility, providing new clues and ideas for the clinical diagnosis of male infertility.