Aim： To explore the possible effect of the deleted in azoospermia （DAZ） copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c （AZFc） region was analyzed in 3...Aim： To explore the possible effect of the deleted in azoospermia （DAZ） copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c （AZFc） region was analyzed in 346 normozoospermic men. Methods： Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction （PCR）-restriction fragment length polymorphism and routine PCR. Results： Five （1.4%） of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion： The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. （Asian J Androl 2006 Mar; 8： 183-187）展开更多
Various methods are currently under investigation to preserve fertility in males treated with high-dose chemotherapy and radiation for malignant and nonmalignant disorders. Human umbilical cord mesenchymal stem cells ...Various methods are currently under investigation to preserve fertility in males treated with high-dose chemotherapy and radiation for malignant and nonmalignant disorders. Human umbilical cord mesenchymal stem cells （HUC-MSCs）, which possess potent immunosuppressive function and secrete various cytokines and growth factors, have the potential clinical applications. As a potential alternative, we investigate whether injection of HUC-MSCs into the interstitial compartment of the testes to promote spermatogenic regeneration efficiently. HUC-MSCs were isolated from different sources of umbilical cords and injected into the interstitial space of one testis from 10 busulfan-treated mice （saline and HEK293 cells injections were performed in a separate set of mice） and the other testis remained uninjected. Three weeks after MSCs injection, Relative quantitative reverse transcription polymerase chain reaction was used to identify the expression of 10 of germ cell associated, which are all related to meiosis, demonstrated higher levels of spermatogenic gene expression （2-8 fold） in HUC-MSCs injected testes compared to the contralateral uninjected testes （five mice）. Protein levels for germ cell-specific genes, miwi, vasa and synaptonemal complex protein （Scp3） were also higher in MSC-treated testes compared to injected controls 3 weeks after treatment. However, no different expression was detected in saline water and HEK293 cells injection control group. We have demonstrated HUC-MSCs could affect mouse germ cell-specific genes expression. The results also provide a possibility that the transplanted HUC-MSCs may promote the recovery of spermatogenesis. This study provides further evidence for preclinical therapeutic effects of HUC-MSCs, and explores a new approach to the treatment of azoospermia.展开更多
Male infertility is one of the most common causes in abnormal fertility. Some of them havechromosomal unusualness.Cytogenetic investigations were carried out on 50 males with azoospermia.Chromosomal prepartions made f...Male infertility is one of the most common causes in abnormal fertility. Some of them havechromosomal unusualness.Cytogenetic investigations were carried out on 50 males with azoospermia.Chromosomal prepartions made from peripheral blood lymphocytes were analysed with conventional GTGand CBG banding techniques. We found 16 patients showed numerical structural abnormalities of sexchromosome (32.0%):2 subjects with del (Y) (q11), 1 with a large Y(Y^+),6 with 47, XXY, with 47, XXY/46,XY, 2 with 46, XY/45, and 1 with 46,XX.The relationship between sex chromosome and azoospermiais discussed. The 46, XX male is a very rarely case known as sex reveroed syndrome. For this case, furtherstudies were needed to ascertain the presence of Yp specific materials.展开更多
目的应用生物信息学方法研究非梗阻性无精子症(NOA)的关键微小RNA(microRNAs,miRNAs)和差异表达基因,为非梗阻性无精子症的病因分析提供新的思路。方法在PubMed、Embase和Web of Science中筛选、提取并整合文献报道的NOA相关的miRNAs,...目的应用生物信息学方法研究非梗阻性无精子症(NOA)的关键微小RNA(microRNAs,miRNAs)和差异表达基因,为非梗阻性无精子症的病因分析提供新的思路。方法在PubMed、Embase和Web of Science中筛选、提取并整合文献报道的NOA相关的miRNAs,并利用联川生物云平台预测靶基因。检索NCBIGEO数据库中的非梗阻性无精子症基因芯片数据,获得GSE145467和GSE108886数据集并进行GEO2R在线分析,得出NOA相关的差异表达基因,并与预测的靶基因取交集获得最终的差异表达基因。运用DAVID对差异表达基因进行GO富集和KEGG通路分析,应用STRING构建差异表达基因相关的蛋白质互作网络。结果共检索到5条差异表达miRNAs,其中上调表达1条为miR-10b-5p,下调表达4条分别为miR-34b-5p、miR-34b-3p、miR-34c-5p和miR-449a。共得出最终差异表达基因868个,其中上调基因776个,下调基因92个。GO富集结果显示,差异基因参与的生物过程(BP)主要包括纤毛组装、精子轴丝组装、纤毛依赖性细胞运动、顶体组装、精子发生、细胞蛋白质代谢过程等;细胞组成(CC)主要包括活动纤毛、轴丝、精子鞭毛、中心粒等;分子功能(MF)主要包括蛋白质结合、纤毛蛋白轻链的结合和蛋白质稳定化等。KEGG相关通路涉及卵巢类固醇激素生成、多个物种长寿调控途径、扩张型心肌病、内分泌抵抗、孕酮介导的卵母细胞成熟等。通过cytoscape分析前20位的hub基因分别为TEKT3、EFHC1、DYNLL2、DNAH2、CETN1、SPATA7、ASRGL1、CCDC146、PLCZ1、SPAG16、DNAL1、EFCAB11、SPA4L、LIN7A、TEKT1、FXR1、RPGRIP1、DPY19L2、DDX25、ZC3H14。结论本研究鉴定的miRNAs、hub基因和相关通路,在精子发生过程中发挥着重要的作用,可为后续拓展研究NOA的病因机制提供参考靶点。展开更多
基金the National High Technology Research and Development Program （863 Program, China, grant numbers 2002BA711A08 and 2004AA216090） National Natural Science Foundation of China （grant number 30371491）+1 种基金 Foundation of Population and Family Planning Committee, Sichuan Province, China （grant number 200149） the China Medical Board Foundation.
文摘Aim： To explore the possible effect of the deleted in azoospermia （DAZ） copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c （AZFc） region was analyzed in 346 normozoospermic men. Methods： Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction （PCR）-restriction fragment length polymorphism and routine PCR. Results： Five （1.4%） of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion： The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. （Asian J Androl 2006 Mar; 8： 183-187）
文摘Various methods are currently under investigation to preserve fertility in males treated with high-dose chemotherapy and radiation for malignant and nonmalignant disorders. Human umbilical cord mesenchymal stem cells （HUC-MSCs）, which possess potent immunosuppressive function and secrete various cytokines and growth factors, have the potential clinical applications. As a potential alternative, we investigate whether injection of HUC-MSCs into the interstitial compartment of the testes to promote spermatogenic regeneration efficiently. HUC-MSCs were isolated from different sources of umbilical cords and injected into the interstitial space of one testis from 10 busulfan-treated mice （saline and HEK293 cells injections were performed in a separate set of mice） and the other testis remained uninjected. Three weeks after MSCs injection, Relative quantitative reverse transcription polymerase chain reaction was used to identify the expression of 10 of germ cell associated, which are all related to meiosis, demonstrated higher levels of spermatogenic gene expression （2-8 fold） in HUC-MSCs injected testes compared to the contralateral uninjected testes （five mice）. Protein levels for germ cell-specific genes, miwi, vasa and synaptonemal complex protein （Scp3） were also higher in MSC-treated testes compared to injected controls 3 weeks after treatment. However, no different expression was detected in saline water and HEK293 cells injection control group. We have demonstrated HUC-MSCs could affect mouse germ cell-specific genes expression. The results also provide a possibility that the transplanted HUC-MSCs may promote the recovery of spermatogenesis. This study provides further evidence for preclinical therapeutic effects of HUC-MSCs, and explores a new approach to the treatment of azoospermia.
文摘Male infertility is one of the most common causes in abnormal fertility. Some of them havechromosomal unusualness.Cytogenetic investigations were carried out on 50 males with azoospermia.Chromosomal prepartions made from peripheral blood lymphocytes were analysed with conventional GTGand CBG banding techniques. We found 16 patients showed numerical structural abnormalities of sexchromosome (32.0%):2 subjects with del (Y) (q11), 1 with a large Y(Y^+),6 with 47, XXY, with 47, XXY/46,XY, 2 with 46, XY/45, and 1 with 46,XX.The relationship between sex chromosome and azoospermiais discussed. The 46, XX male is a very rarely case known as sex reveroed syndrome. For this case, furtherstudies were needed to ascertain the presence of Yp specific materials.
文摘目的应用生物信息学方法研究非梗阻性无精子症(NOA)的关键微小RNA(microRNAs,miRNAs)和差异表达基因,为非梗阻性无精子症的病因分析提供新的思路。方法在PubMed、Embase和Web of Science中筛选、提取并整合文献报道的NOA相关的miRNAs,并利用联川生物云平台预测靶基因。检索NCBIGEO数据库中的非梗阻性无精子症基因芯片数据,获得GSE145467和GSE108886数据集并进行GEO2R在线分析,得出NOA相关的差异表达基因,并与预测的靶基因取交集获得最终的差异表达基因。运用DAVID对差异表达基因进行GO富集和KEGG通路分析,应用STRING构建差异表达基因相关的蛋白质互作网络。结果共检索到5条差异表达miRNAs,其中上调表达1条为miR-10b-5p,下调表达4条分别为miR-34b-5p、miR-34b-3p、miR-34c-5p和miR-449a。共得出最终差异表达基因868个,其中上调基因776个,下调基因92个。GO富集结果显示,差异基因参与的生物过程(BP)主要包括纤毛组装、精子轴丝组装、纤毛依赖性细胞运动、顶体组装、精子发生、细胞蛋白质代谢过程等;细胞组成(CC)主要包括活动纤毛、轴丝、精子鞭毛、中心粒等;分子功能(MF)主要包括蛋白质结合、纤毛蛋白轻链的结合和蛋白质稳定化等。KEGG相关通路涉及卵巢类固醇激素生成、多个物种长寿调控途径、扩张型心肌病、内分泌抵抗、孕酮介导的卵母细胞成熟等。通过cytoscape分析前20位的hub基因分别为TEKT3、EFHC1、DYNLL2、DNAH2、CETN1、SPATA7、ASRGL1、CCDC146、PLCZ1、SPAG16、DNAL1、EFCAB11、SPA4L、LIN7A、TEKT1、FXR1、RPGRIP1、DPY19L2、DDX25、ZC3H14。结论本研究鉴定的miRNAs、hub基因和相关通路,在精子发生过程中发挥着重要的作用,可为后续拓展研究NOA的病因机制提供参考靶点。
