中文摘要：

据世界卫生组织（WHO）评估，不孕不育已经威胁到全球约15％的育龄夫妇，也就是每6—7对夫妇中有1对夫妇存在生育问题。我国近期调查结果显示。国内不孕不育症患者约占已婚夫妇人数的10％．而且发病率呈上升趋势。其中男性不育患者占据人类不孕不育患者的一半左右。男性不育症的原因很多。包括生殖细胞形成异常和精子发生障碍等。基因突变会导致这两种问题的出现．进而引起男性不育。虽然辅助生殖技术能帮助部分男性不育患者获得后代。但是对于基因突变导致的少、弱、畸形精子症，许多基因突变会随着亲代传递到下一代中．进而影响下一代的生育力。而对于无精症患者．目前缺乏治疗的手段。因此，解决基因突变导致的不育症研究将会是一项具有挑战性的工作。本研究由南京医科大学和中国科学院动物研究所合作．利用Kitw／Kitwv不育症小鼠模型进行模拟．结合体细胞重编程、基因修复TALENs技术、胚胎干细胞向生殖细胞分化等一系列技术帮助无精症小鼠产生有功能的配子及健康后代。本研究为临床治疗由基因突变导致的男性不育症开拓了新的技术方法。本文对这一研究进展做一介绍。

英文摘要：

According to the World Health Organization （WHO） assessment, infertility has been a threat to about 15 percent of reproductive age couples in the world, which means that one of every six to seven cou- ples undergo cent surveys reproductive disorders. In our country, reclaims 10 percent of married couples bears infertility, and the incidence is rising. Male infertility accounts for about half of human infertility. There are many reasons in male sterility diseases, such as the for- marion of germ cells, abnormal spermatogenesis and so on. Genetic mutations can cause both the problems, which lead to defective sperm function, thereby causing male infertility. Though assisted reproductive technology can solve some infertility problems, it＇s still inability to azoospermia patients, in whose testes functional gametes are no available. Therefore patients could not produce progeny even with assisted reproduction technologies such as in vitro fertilization （IVF） and ICSI. Addition- ally, many gene mutations from parent could be passed to the next generation, which still affecting fertility. It is a major challenge to restore the fertility of patients with azoospermia due to genetic mutations. In our study, using KitW/Kitw~ mouse model, we manage to investigate the feasibility of generating func- tional sperm from gamete deficient patients by combi- ning the reprogramming and gene correction technolo- gies. The above results were accepted publication on Cell Research. The usage of mouse model provided the possibility to improve the feasibility of our technique, meanwhile, our researches also lay a solid foundation for the clinic treatment of female infertility caused by mutation.