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Sanger等~([1])(1977年)发明了双脱氧核苷酸末端终止法并绘制出第一个完整的基因组图谱,标志着第一代测序技术的诞生。上述技术的基本原理大致是利用双脱氧核苷酸(ddNTP)代替脱氧核苷酸(dNTP)为底物进行DNA合成反应,通过STR的长度来进行测序。随后该技术由人工操作发展到自动化,由平板电泳技术发展为毛细管荧光电泳技术,应用已超过30年。而目前二代测序技术也已发展近10年,该技术聚焦于A、T、C、G 4种核苷酸组成的DNA序列,通过检验4种碱基的排列顺序来进行基因测序。二代测序技术比一代技术具有高通量的优越性。本文扼要介绍二代测序技术发展状况和工作原理,以供广大法医学工作者参考。
Sanger et al ~ ([1]) (1977) invented the dideoxynucleotide termination method and mapped out the first complete genomic map, marking the birth of the first generation sequencing technology. The basic principle of the above technique is roughly to perform DNA synthesis reactions using dNTPs instead of dNTPs and sequencing by length of STRs. Then the technology developed by the manual operation to automation, by the development of electrophoresis by capillary electrophoresis technology, has been used for more than 30 years. At present, the second-generation sequencing technology has also been developed for nearly 10 years. The technology focuses on DNA sequences consisting of four nucleotide sequences of A, T, C and G, and carries out gene sequencing by examining the arrangement order of four kinds of bases. Second-generation sequencing technology has the advantages of high throughput than the generation of technology. This article briefly describes the development of second-generation sequencing technology and working principle for the majority of forensic workers for reference.