中文摘要：

卵胞浆内精子注射（Intracytoplasmic sperm injection,ICSI）技术可用于男性少精、弱精、精子畸形、无精子和常规体外受精周期失败等,克服了精子数量不足甚至直接从附睾、睾丸获取精子来治疗不育。该技术直接将单个精子注射入卵子,因违背自然受精的生物学法则而具有很大的遗传风险。文章对ICSI精子遗传缺陷和表观遗传缺陷及其相关疾病进行综述,可进一步认识ICSI精子遗传与表观遗传缺陷导致后代遗传风险增加的分子的机理,文章阐述了ICSI精子有待于通过DNA甲基化、组蛋白乙酰化等表观遗传因子进行严格质量控制,切实降低ICSI遗传及表观遗传缺陷风险的必要性。

英文摘要：

Intracytoplasmic sperm injection （ICSI） can be applied to treat male infertility patients of oligospermia, asthenospermia, teratospermia, azoospermia and failure of the common in-vitro fertilization （IVF）, which may overcome the sperm deficiency and even obtain sperms directly from percutaneous epididymal sperm aspiration （PESA） and testicular sperm extraction （TESE）. As for direct injection of a single sperm into an egg, the ICSI disobeys the biological laws of natural insemination, thus leading to high genetic and epigenetic risk for patients owing to genetic and epigenetic defect of sperm. By reviewing the genetic and epigenetic defects of ICSI sperm, as well as related diseases, this article aims at understanding of the risks resulting from the genetic and epigenetic defects of ICSI sperm at a molecular mechanism level. The results show that the quality control of ICSI sperm via detecting its epigenetic factors, such as methylated DNA and acetylated histone, is essential for reducing the genetic and epigenetic risk from ICSI.