精子发生障碍的遗传学研究进展  

Progress in the genetic studies of spermatogenesis abnormalities

作　　者：张星雨 祝天喻 张清荣 郭雪江[1] 王铖[1] 靳光付[1] 胡志斌[1] Xingyu Zhang;Tianyu Zhu;Qingrong Zhang;Xuejiang Guo;Cheng Wang;Guangfu Jin;Zhibin Hu(State Key Laboratory of Reproductive Medicine,Nanjing Medical University.Nanjing 211166,China)

机构地区：[1]南京医科大学生殖医学国家重点实验室,南京211166

出　　处：《遗传》2021年第5期473-486,共14页Hereditas（Beijing)

基　　金：国家重点研发计划项目(编号:2016YFA0503300)。

摘　　要：育龄人群中约15%的夫妻被不孕不育困扰,其中男方因素导致的不孕不育约占50%。男性不育通常由精子发生障碍导致,呈现为少、弱、畸形精子症,最严重的是无精子症。本文以精子发生障碍为主线,重点综述了非梗阻性无精子症和畸形精子症的遗传学病因研究。近年来,随着高通量芯片和测序技术的快速发展,无精子症和畸形精子症的遗传学因素得以深入的揭示与解析。围绕无精子症,全基因组关联研究与高通量测序研究揭示了一批非梗阻性无精子症的风险位点和致病基因;围绕畸形精子症,全外显子测序等研究鉴定了一系列致病基因,极大地丰富了精子鞭毛多发性形态异常等精子畸形的遗传学病因。大量致病基因的发现,促进了男性不育病理机制的阐明。全面而深入地了解精子发生障碍中的遗传因素,对男性不育的诊断、临床治疗和遗传咨询具有重要的意义。About 15%couples suffer from infertility,half of which are caused by male factors.Male infertility usually manifests as teratozoospermia,oligospermia and/or asthenospermia,of which the most severe form is azoospermia.In this review,we summarize the recent progress in the study of genetic factors involved in nonobstructive azoospermia and teratozoospermia,Recently,with the rapid development of high-throughput chips and sequencing technologies,many genetic factors of spermatogenesis have been discovered and analyzed.For the nonobstructive azoospermia,genome-wide association studies(GWAS)and high-throughput sequencing revealed many risk loci of nonobstructive azoospermia.For the teratozoospermia,the application of whole-exome sequencing(WES)revealed a series of disease-causing genes,greatly enriching our knowledge of teratozoospermia including multiple morphological abnormalities of the flagella(MMAF).The discovery of lots of disease genes helped the characterization of the pathological mechanisms of male infertility.Therefore,a comprehensive and in-depth understanding of genetic factors in spermatogenesis abnormalities will play important roles in the clinical diagnosis,treatment and genetic counseling of male infertility.

关 键 词：精子发生 遗传因素 非梗阻性无精子症 精子畸形 鞭毛多发性形态异常 

分 类 号：R698.2[医药卫生—泌尿科学]