高通量DNA合成测序化学研究进展
Advance in Sequence Chemistry of High-Throughput DNA Sequencing by Synthesis
摘要: 高通量DNA测序是近年来发展起来的革命性技术，大大推动了快速、廉价获取基因组信息的能力，进而对生命科学产生深刻的影响。测序化学是高通量DNA测序的重要内容，且发展十分迅速；一些构思巧妙的新颖测序化学方法被相继报道，本文综述了高通量DNA测序化学的最新研究进展。
Abstract: High-throughput DNA sequencing, a revolutionized technology, greatly accelerated mining data from ge- nomes rapidly and cost-efficiently, thus have a profound impact on life sciences. Sequencing chemistry is a pivotal part of high-throughput DNA sequencing, and has been developed dramatically in recently years; a number of ingenious methods of novel sequencing chemistry by synthesis have been reported. In this paper, the development of high- throughput DNA sequencing chemistry by synthesis is reviewed.
文章引用：陈婧, 肖鹏峰. 高通量DNA合成测序化学研究进展[J]. 生物过程, 2012, 2(1): 1-6. http://dx.doi.org/10.12677/bp.2012.21001

参考文献

[1] J. Shendure, H. L. Ji. Next-generation DNA sequencing. Nature Biotechnology, 2008, 26(10): 1135-1145.
[2] F. Sanger, S. Nicklen and A. R. Coulson. DNA sequencing with chain-terminating inhibitors. Proceeding of the National Academy of Sciences USA, 1977, 74: 5463-5467.
[3] E. Mardis. Next-generation DNA sequencing methods. Annual Review of Genomics and Human Genetics, 2008, 9: 387-402.
[4] J. Korlach, P. J. Marks, R. L. Cicero, et al. Selective aluminum passivation for targeted immobilization of single DNA polymerase molecules in zero-mode waveguide nanostructures. Proceeding of the National Academy of Sciences USA, 2008, 105: 1176-1181.
[5] D. R. Bentley, S. Balasubramanian, H. P. Swerdlow, et al. Accu- rate whole human genome sequencing using reversible terminator chemistry. Nature, 2008, 456: 53-59.
[6] M. Ronaghi, M. Uhlen, et al. A sequencing method based on real-time pyrophosphate. Science, 1998, 281(5375): 363-365.
[7] M. Margulies, M. Egholm, W. E. Altman, et al. Genome sequencing in microfabricated high-density picolitre reactors. Na- ture, 2005, 437(7057): 376-380.
[8] J. M. Rothberg, W. Hinz, T. D. Rearick, et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature, 2011, 475: 348-352.
[9] E. Check. Fast sequencing comes to light. Nature, 2005, Nature News.
[10] J. Wu, S. Zhang, Q. Meng, et al. 3’-O-modified nucleotides as reversible terminators for pyrosequencing. Proceeding of the National Academy of Sciences USA, 2007, 104: 16462-16467.
[11] C. Toumazou, C. Purushothaman. Sensing apparatus and method. US Patent, 7686929b2, 2010.
[12] N. Rusk. Torrents of sequence. Nature Methods, 2011, 8(1): 444.
[13] P. A. Sims, W. J. Greenleaf, H. Duan, et al. Fluorogenic DNA sequencing in PDMS microreactors. Nature Methods, 2011, 8: 575-580.
[14] G. Giller, T. Tasara, B. Angerer, et al. Incorporation of reporter molecule-labeled nucleotides by DNA polymerases. I. Chemical synthesis of various reporter group-labeled 2'-deoxyri-bonu- cleoside-5'-triphosphates. Nucleic Acids Research, 2003, 31(10): 2630-2635.
[15] E. K. Lewis, W. C. Haaland, F. Nguyen, et al. Color-blind fluorescence detection for four-color DNA sequencing. Proceeding of the National Academy of Sciences USA, 2005, 102(15): 5346- 5351.
[16] G. Turcatti, A. Romieu, M. Fedurco, et al. A new class of cleavable fluorescent nucleotides: Synthesis and optimization as reversible terminators for DNA sequencing by synthesis. Nucleic Acids Research, 2008, 36(4): e25.
[17] J. Y. Ju, D. H. Kim, L. R. Bi, et al. Four-color DNA sequencing by synthesis usingcleavable fluorescent nucleotidereversible ter- minators. Proceeding of the National Academy of Sciences USA, 2006, 103(52): 19635-19640.
[18] H. Ruparel, L. R. Bi, Z. M. Li, et al. Design and synthesis of a 3’-O-allyl photocleavable fluorescent nucleotide as a reversible terminatorfor DNA sequencing by synthesis. Proceeding of the National Academy of Sciences USA, 2005, 102(17): 5932-5937.
[19] T. S. Kim, D. R. Kim, H. C. Ahn, et al. Novel 3’-O-Fluores- cently modified nucleotides for reversible termi-nation of DNA synthesis. Chembiochem, 2009, 11: 75-78.
[20] J. Guo, N. Xu, Z. M. Li, et al. Four-color DNA sequencing with 3’-O-modified nucleotide reversible terminators and chemically cleavable fluorescent dideoxynucleotides. Proceeding of the National Academy of Sciences USA, 2008, 105(27): 9145-9150.
[21] J. Guo, L. Yu, N. J. Turro, et al. An integrated system for DNA sequencing by synthesis using novel nucleotide analogues. Accounts of Chemical Research, 2010, 43: 551-563.
[22] D. C. Knapp, S. Serva, J. D’Onofrio, et al. Fluo-ride-cleavable, fluorescently labelled reversible terminators: Synthesis and use in primer extension. Chemistry—A European Journal, 2011, 17(10): 2903-2915.