畸形精子症分子遗传学机制研究进展

Molecular genetic mechanisms of teratozoospermia

畸形精子症是影响男性不育的重要因素之一,然而其发病机制尚未明晰。近年来,对精子形态的研究取得了一定进展,某些基因被证实与畸形精子症的发生有关。本文回顾近5年文献,透过大量对圆头精子症、精子核空泡、断头精子症、残余胞质、纤维鞘发育不良(DFS)和原发性纤毛运动障碍(PCD)等特殊形态异常精子的研究,详细阐述了DPY19L2、AR、PRM1、GBA2、PCI、CREM、TH2A、TH2B、ODF1、Cntrob、OAZ-t、HOOK1、SPEM1、GAT1、PRSS21、15-LOX、Sptrx、AKAP3、AKAP4、DNAI1、DNAH5、RSPH4A、TXNDC3、CCDC39、LRRC6、LRRC50、KTU等基因的分子遗传学机制,旨为畸形精子症的致病机制研究提供依据。同时本综述回顾了国内外对上述畸形精子症患者进行辅助生殖治疗的最新进展,并探讨这类患者的辅助生殖结局,为男性不育的诊治提供理论依据。

Teratozoospermia is one of the important factors contributing to male infertility, and its pathogenesis is not yet clear. Recent years have witnessed some progress in the researches on sperm morphology, and some genes have been confirmed to be correlated with spermatogenesis. Aiming to provide some evidence for the pathogenesis of teratozoospermia, this paper reviews the rele- vant literature in the past five years addressing such special teratozoospermia as globozoospermia, nuclear vacuoles, decapitated sper- matozoa, excessive residual cytoplasm, dysplasia of the fibrous sheath, and primary ciliary dyskinesia, and elaborates on the molecular genetic mechanisms of DPY19L2, AR, PRM1, GBA2, PCI, CREM, TH2A, TH2B, ODF1, Cntrob, OAZ-t, HOOK1, SPEM1, GAT1, PRSS21, 15-LOX, Sptrx, AKAP3, AKAP4, DNAI1, DNAHS, RSPH4A, TXNDC3, CCDC39, LRRC6, LRRCS0, KTU and so on. Meanwhile, this review also presents an overview on the latest advances in assisted reproductive technology and its outcomes in the treatment of teratozoospermia patients in order to provide a theoretical basis for the diagnosis and treatment of male infertility.