Cfap43基因缺陷小鼠组织病理学研究  

Histopathological study of Cfap43 deficient mice

作　　者：余怡 王家雄[1] 马勇 许伟伟[1] 王玮[1] 李红[1] 杨慎敏[1] YU Yi;WANG Jia-xiong;MA Yong;XU Wei-wei;WANG Wei;LI Hong;YANG Shen-min(Center for Reproduction & Genetics,the Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215002)

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心

出　　处：《生殖医学杂志》2019年第8期931-937,共7页Journal of Reproductive Medicine

基　　金：江苏省卫健委面上项目(H2018050);苏州市科教兴卫青年科技项目(KJXW2017028)

摘　　要：目的观察Cfap43基因(cilia-and flagella-associated proteins 43)缺陷小鼠精子表型以及多个脏器组织病理学表现。方法使用CRISPR/Cas9技术生成Cfap43敲除小鼠,通过Sanger测序对繁殖后小鼠进行基因型鉴定。选取同一批次的8周龄Cfap43缺陷小鼠Cfap43(-/-)与野生型小鼠(wild type,WT)进行组织病理学检测。观察Cfap43缺陷对小鼠精子表型以及附睾、睾丸、肾、肝、脾、肺、脑、小肠病理结构与超微结构的影响。结果Sanger测序结果显示纯合突变小鼠有2 bp碱基的缺失,Cfap43基因缺陷小鼠附睾精子尾部出现短、粗、卷曲甚至尾部缺失等畸形。病理学观察可见Cfap43基因缺陷小鼠附睾管内成熟精子减少,睾丸生精小管内生精细胞排布紊乱;电镜可见尾部结构排列紊乱;通过透射电镜观察精子头部的变形和浓缩未见明显异常。其他实质脏器如肾、肝、脾、肺、脑、小肠的病理形态与超微结构未见明显改变。结论Cfap43基因缺陷小鼠精子主要表现为鞭毛出现多种畸形,但对其他实质脏器病理形态无明显影响。Objective:To investigate the histopathology of sperm phenotype and multiple organs in mice with Cfap43 gene-deficiency.Methods:Cfap43 knock-out mice were generated by using CRISPR/Cas9 technology,and then the post-breeding mice were genotyped by using Sanger sequence.The same batch of Cfap43(-/-)mice with 8 weeks old and wild type(WT)mice were selected for histopathology examination.The sperm phenotype and the pathological and ultrastructure changes of epididymis,testis,kidney,liver,spleen,lung,brain and small intestine in mice with Cfap43 gene-deficiency were observed.Results:Sanger sequencing results showed that the homozygous mice had 2bp base deletion.Compared with WT mice,the epididymal sperm tail of Cfap43 gene-deficient mice had short,thick or coiled deformities and even absent tail.There were fewer mature sperm in the epididymis and disorder of spermatogenic cells in the testicular seminiferous tubules.Electron microscopy showed that the tail structure was disordered.There was no obvious abnormality in the deformation and concentration of sperm head by transmission electron microscopy.There were also no significant differences in the pathological morphology or ultrastructure of the other parenchymal organs such as kidney,liver,spleen,lung,brain or small intestine.Conclusions:The sperm of Cfap43 gene-deficient mice mainly showed various malformations of flagella,but there are no significant pathological morphology abnormalities of other parenchymal organs.

关 键 词：畸形精子 精子鞭毛 Cfap43 组织病理 

分 类 号：R-332[医药卫生]