TSPY1基因与男性不育关系的研究进展

Current progress in TSPY1 gene and male infertility

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 multi - gene disease, some genetic variants on the Y chromosome have been proved to be related to male infertility, such as androgen receptor gene mutations and the Y chromosome AZF deletions. Foreign scholars have cur- rently reported a new gene - TSPY1 gene copy number variation associated with male infertility. There are fewer experimental studies about this relation and it has not be reported inland. This paper reviews the structure and function of TSPY1 gene, the association be- tween TSPY1 gene copy number and male infertility, as well as its possible mechanisms, which provides new clues and ideas for the clinical diagnosis of male infertility.