男性不育相关印记基因研究进展

Progress in research on imprinted gene associated with male infertility

随着对男性不育病因机制的深入研究，男性不育与印记基因异常甲基化的联系引起了广泛关注。H19、MEG3、MEST、SNRPPN基因是与男性不育相关的印记基因，异常的印记信息可能会对精液质量（如精子浓度、活力和形态）产生影响，但其机制目前尚不清楚。精子基因印记重建和擦除分别出现在精子发生过程和胚胎移植前，加之越来越多研究显示通过辅助生殖技术出生子代患印记紊乱综合征的几率明显高于自然生育的子代，引发了人们对于辅助生殖技术安全性的担忧，并推测该技术操作过程及体外环境可能会对精子印记信息产生影响，继而导致子代患印记疾病，但这种推测尚缺乏有力的证据。本文系统地阐述了印记基因异常对男性生育能力的影响以及其对子代可能衍生的影响，为男性不育病因的表观遗传学机制研究提供帮助。

The connection between male infertility and abnormal methylation of imprinted genes has attracted much attention. Some imprinted genes, e. g. , H19, MEG3, MEST and SNRPN, are known to be related with male infertility. Abnormal imprinted information may influence sperm concentration, motility and morphology, but the mechanism is still unclear. Sperm genomic imprinting reconstruction and erase respectively occur at the time of spermatogenesis and before embryo transfer. Many studies have shown that the probability of imprinting disorder syndrome of offspring born through assisted reproductive technology （ART） was significantly higher, leading to the worry about the safety of ART and speculation that the operation and in vitro environment may affect sperm imprinted information, which in turn may lead to imprinting diseases in the offspring. However, above connection still lacks convincing evidence. This paper has conducted a literature review of recent literature and explored the impact of abnormal methylation of imprinted genes on male fertility and the offspring.