目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关...目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。展开更多
All cancers arise as a result of abnormalities occurring in the DNA sequence of cancer cells, and we are now stepping into an era in which it is feasible to obtain the complete DNA sequence of large cohorts of cancer ...All cancers arise as a result of abnormalities occurring in the DNA sequence of cancer cells, and we are now stepping into an era in which it is feasible to obtain the complete DNA sequence of large cohorts of cancer patients. The International Cancer Genome Consortium （ICGC） launched in 2007 is devoted to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes and systematic studies of more than 25,000 cancer genomes. Several participant groups have summa- rized and published their data for various cancers. As the active members of ICGC, Chinese cancer genome investi- gators have contributed research for 13 tumor types and released some research articles about esophageal, liver, bladder, and kidney cancers. As genetic alterations in thousands of tumors have now been catalogued, the pan- cancer analysis has become ICGC at present. The ICGC the most significant role of research network will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define molecular subtypes for clinicalimplication, and enable the development of individual therapeutics for human cancers.展开更多
文摘目的泛素特异蛋白酶26基因(ubiquitin specific protease 26,USP26)序列改变是否影响精子发生还存在争议。文中对精子发生障碍患者进行USP26基因序列分析,以检验USP26基因序列改变在不育男性患者中的分布,并分析与精子发生障碍之间的关系。方法在排除染色体畸变和Y染色体微缺失的基础上,对156例无精子症和非梗阻性少精子症不育患者和86例正常生育男性对照者进行了USP26基因测序。结果USP26基因序列存在6种改变,其中g.508G>A,p.G170R仅在少精子组中发现,以前未见报道。除同义突变g.576G>A外,其他序列改变在不育组和生育组中的分布没有显著差异。结论USP26基因序列改变可能并不直接影响精子发生。
基金supported by the National NaturalScience Foundation of China(81402300)
文摘All cancers arise as a result of abnormalities occurring in the DNA sequence of cancer cells, and we are now stepping into an era in which it is feasible to obtain the complete DNA sequence of large cohorts of cancer patients. The International Cancer Genome Consortium （ICGC） launched in 2007 is devoted to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes and systematic studies of more than 25,000 cancer genomes. Several participant groups have summa- rized and published their data for various cancers. As the active members of ICGC, Chinese cancer genome investi- gators have contributed research for 13 tumor types and released some research articles about esophageal, liver, bladder, and kidney cancers. As genetic alterations in thousands of tumors have now been catalogued, the pan- cancer analysis has become ICGC at present. The ICGC the most significant role of research network will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define molecular subtypes for clinicalimplication, and enable the development of individual therapeutics for human cancers.
