Low-energy ion beam implantation （10 - 200 keV） has been proved to have a wide range of biological effects and is broadly used in the breeding of crops and micro-organisms.To understand its mechanisms better and fac...Low-energy ion beam implantation （10 - 200 keV） has been proved to have a wide range of biological effects and is broadly used in the breeding of crops and micro-organisms.To understand its mechanisms better and facilitate its applications, the developments in the bioeffects of low energy ion beam implantation in the past twenty years are summarized in this paper.展开更多
目的运用基于半导体芯片技术的下一代测序方法对地中海贫血、遗传性耳聋、苯丙酮尿症和肝豆状核变性病相关的38个常见致病突变位点进行基因测序,探讨半导体测序技术在遗传病检测方面的应用价值。方法采用AmpliSeq方法通过多重PCR捕获目...目的运用基于半导体芯片技术的下一代测序方法对地中海贫血、遗传性耳聋、苯丙酮尿症和肝豆状核变性病相关的38个常见致病突变位点进行基因测序,探讨半导体测序技术在遗传病检测方面的应用价值。方法采用AmpliSeq方法通过多重PCR捕获目的片段,然后构建文库,用Ion Torrent Proton^(TM)测序仪进行测序反应,进而通过Sanger一代测序法进行结果比较验证。结果 33个样本中共检测出15例样本存在功能性遗传变异,其中HBB:52A>T 5例、HBB:84_85ins C 3例、HBB:45_46ins G 2例、HBB:2T>G 1例、GJB3:538C>T 1例、ATP7B:2333G>T 1例、GJB2:235del C 1例、SLC26A4:IVS7-2A>G 1例,Sanger一代测序结果与下一代测序结果完全一致。结论半导体测序能准确检测该4种遗传病常见突变,对遗传病发病机制的研究及筛查具有一定的应用价值。展开更多
文摘Low-energy ion beam implantation （10 - 200 keV） has been proved to have a wide range of biological effects and is broadly used in the breeding of crops and micro-organisms.To understand its mechanisms better and facilitate its applications, the developments in the bioeffects of low energy ion beam implantation in the past twenty years are summarized in this paper.
文摘目的运用基于半导体芯片技术的下一代测序方法对地中海贫血、遗传性耳聋、苯丙酮尿症和肝豆状核变性病相关的38个常见致病突变位点进行基因测序,探讨半导体测序技术在遗传病检测方面的应用价值。方法采用AmpliSeq方法通过多重PCR捕获目的片段,然后构建文库,用Ion Torrent Proton^(TM)测序仪进行测序反应,进而通过Sanger一代测序法进行结果比较验证。结果 33个样本中共检测出15例样本存在功能性遗传变异,其中HBB:52A>T 5例、HBB:84_85ins C 3例、HBB:45_46ins G 2例、HBB:2T>G 1例、GJB3:538C>T 1例、ATP7B:2333G>T 1例、GJB2:235del C 1例、SLC26A4:IVS7-2A>G 1例,Sanger一代测序结果与下一代测序结果完全一致。结论半导体测序能准确检测该4种遗传病常见突变,对遗传病发病机制的研究及筛查具有一定的应用价值。
