精子遗传异常在复发性流产中作用的研究进展

Role of sperm genetic abnormality in recurrent pregnancy loss: An update

复发性流产(RPL)病因复杂,在育龄期女性中发生率为2%~5%,其中仅有50%的RPL患者可以确定病因。到目前为止,医学界对RPL大部分的病因学研究仅围绕着女性开展,对男性精子在RPL发生发展过程中所起的作用却不够重视。许多临床研究显示,精子遗传物质与胚胎发育潜能与妊娠结局息息相关。精子的生成与发育、精卵的结合以及受精卵的着床与发育,每一个过程都受到染色体与多种基因的调控。由于胚胎一半的基因组由精子提供,因此,精子染色体的数目与结构异常,精子DNA的完整性异常,基因的突变以及表观遗传学的异常都有可能导致复发性流产的发生。为此,本文就精子遗传异常在RPL中的作用的研究进展做一综述,希望有助于未来RPL的预测、诊断和治疗。

Recurrent pregnancy loss(RPL) is pathogenically complicated and has an incidence rate of 2% to 5% in women of reproductive age. Only 50% of the RPL cases have been confirmed in etiology. So far, studies on the etiology of RPL have focused on women and little attention has been paid to the role of sperm in the development and progression of the disease. Many clinical studies have shown that the genetic material of sperm and developmental potential of embryos are closely related to the outcome of pregnancy. All the processes of sperm generation and development, sperm-egg combination, and implantation and development of fertilized eggs are regulated by chromosomes and various genes. Half of the genomes in the embryo are provided by sperm. RPL may be induced by abnormal number and structure of sperm chromosomes and sperm DNA integrity, gene mutations, and epigenetic abnormalities. This review presents an overview on the advances in the studies of the role of sperm genetic abnormality in RPL, hoping to give some help with the prediction, diagnosis and treatment of the disease.