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中华临床实验室管理电子杂志 ›› 2014, Vol. 02 ›› Issue (04) : 19 -23. doi: 10.3877/cma.j.jssn.2095-5820.2014.04.005

综述

基因测序技术及其临床应用
陈丹1, 刘根焰1, 徐建1, 黄珮珺1, 潘世扬1,()   
  1. 1.210029 南京医科大学第一附属医院检验学部(国家临床检验重点专科)
  • 出版日期:2014-11-28
  • 通信作者: 潘世扬
  • 基金资助:
    江苏省实验诊断学重点实验室资助项目(XK201114)江苏高校优势学科建设工程资助项目国家自然科学基金资助项目(81201359,81371894,81302531,81471994)

Progress and problems of clinical gene sequencing

Dan Chen1, Genyan Liu1, Jian Xu1, Peijun Huang1, Shiyang Pan1,()   

  1. 1.Department of Laboratory Medicine,the First Affiliated Hospital of Nanjing Medical University;National Key Clinical Department of Laboratory Medicine,Nanjing 210029,China
  • Published:2014-11-28
  • Corresponding author: Shiyang Pan
引用本文:

陈丹, 刘根焰, 徐建, 黄珮珺, 潘世扬. 基因测序技术及其临床应用[J/OL]. 中华临床实验室管理电子杂志, 2014, 02(04): 19-23.

Dan Chen, Genyan Liu, Jian Xu, Peijun Huang, Shiyang Pan. Progress and problems of clinical gene sequencing[J/OL]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2014, 02(04): 19-23.

基因是控制生物性状的基本遗传单位,与人类疾病密切相关,随着分子生物技术的飞速发展,基因测序已从早期昂贵低效的一代测序技术发展到高通量二代测序技术直至最新的单细胞实时测序技术,高效快捷精确的新一代测序技术为生命科学研究和临床疾病诊断提供有力检测手段的同时,也存在伦理监管、 技术准入和质量标准等方面的问题。 只有正确规范地在临床实验室开展基因测序,才能更好地发挥其在临床应用中的价值。

Gene as the molecular unit of heredity of a living organism is associated with biological traits and various human diseases. Along with the multi-disciplinary development,there are a lot of progress in gene sequencing technologies,including high-throughput massively parallel DNA sequencing platforms and single molecular real time DNA sequencing,which has potential application values for life science research and clinical medicine;however,there are also many problems,such as ethics,technology admittance,and quality standard. Only the normative gene sequencing might better play its values in clinical application.

1
Watson JD,Crick FH. Genetical implications of the structure of deoxyribonucleic acid[J].Nature,1953,171(4361):964-967.
2
潘世扬. 临床分子诊断学[M]. 北京:人民卫生出版社,2013.
3
Whitfeld PR.A method for the determination of nucleotide sequence in polyribonucleotides[J].Biochem J,1954,58(3):390-396.
4
Sanger F,Air GM,Barrell BG,et al. Nucleotide sequence of bacteriophage phi X174 DNA[J].Nature,1977,265(5596):687-695.
5
Maxam AM,Gilbert W.A new method for sequencing DNA[J]. Proc Natl Acad Sci U S A,1977,74(2):560-564.
6
Gerlt JA,Babbitt PC. Can sequence determine function [J]? Genome Biol,2000,1(15):REVIEWS0005.
7
龚玲,张欣欣. 高通量测序技术在病毒感染性疾病研究中的应用[J].中华传染病杂志,2013,31(3):187-189.
8
马俊香,段化伟,郑玉新. 基因组高通量测序技术进展及其在预防医学中的应用[J].中华预防医学杂志,2012(5),46:471-474.
9
Sachidanandam R,Weissman D,Schmidt SC,et al.A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms[J].Nature,2001,409(6822):928-933.
10
Woo PC,Tsoi HW,Leung KW,et al. Identification of Mycobacterium neoaurum isolated from a neutropenic patient with catheterrelated bacteremia by 16S rRNA sequencing [J]. J Clin Microbiol,2000,38(9):3515-3517.
11
Krizman DB,Wagner L,Lash A,et al. The Cancer Genome Anatomy Project: EST sequencing and the genetics of cancer progression [J].Neoplasia,1999,1(2):101-106.
12
Rockey DD,Lenart J,Stephens RS,et al. Genome sequencing and our understanding of chlamydiae[J].Infect Immun,2000,68(10):5473-5479.
13
Blattner FR,Plunkett G 3rd,Bloch CA,et al.The complete genome sequence of Escherichia coli K-12[J].Science,1997,277(5331):1453-1474.
14
International Human Genome Sequencing Consortium (2001)Initial sequencing and analysis of the human genome. Nature,2001,409(6822):813-958.
15
Garcia CA,Ahmadian A,Gharizadeh B,et al. Mutation detection by pyrosequencing: sequencing of exons 5-8 of the p53 tumor suppressor gene[J].Gene,2000,253(2):249-257.
16
Schuler GD. A gene map of human genome [J]. Science,1996,274(5287):540-546.
17
Venter JC,Adams MD,Myers EW,et al. The sequence of the human genome[J].Science,2001,291(5507):1304-1351.
18
Hutchison CA 3rd.DNA sequencing: bench to bedside and beyond[J].Nucleic Acids Res,2007,35(18):6227-6237.
19
Rothberg JM,Leamon JH. The development and impact of 454 sequencing[J].Nat Biotechnol,2008,26(10):1117-1124.
20
Shendure J,Ji H. Next-generation DNA sequencing [J]. Nat Biotechnol,2008,26(10):1135-1145.
21
Margulies M,Egholm M,Altman WE,et al. Genome sequencing in microfabricated high-density picolitre reactors [J]. Nature,2005,437(7057):376-380.
22
Fedurco M,Romieu A,Williams S,et al.A novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies[J].Nucleic Acids Res,2006,34(3):e22.
23
McKernan K,Blanchard A,Kotler L,et al. Reagents,methods,and libraries for bead-based sequencing:US,20080003571.2006.
24
Harris TD,Buzby PR,Babcock H,et al. Single-molecule DNA sequencing of a viral genome[J].Science,2008,320(5872):106-109.
25
Cockroft SL,Chu J,Amorin M,et al. A single-molecule nanopore device detects DNA polymerase activity with single-nucleotide resolution[J].J Am Chem Soc,2008,130(3):818-820.
26
Eid J,Fehr A,Gray J,et al. Real-time DNA sequencing from single polymerase molecules[J].Science,2009,323(5910):133-138.
27
Korbel JO,Urban AE,Affourtit JP,et al. Paired-end mapping reveals extensive structural variation in the human genome. Science,2007,318(5849):420-426.
28
Pezeshkpoor B,Zimmer N,Marquardt N,et al. Deep intronic‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA[J]. J Thromb Haemost,2013,11(9):1679-1687.
29
Potapova A,Albat C,Hasemeier B,et al. Systematic cross-validation of 454 sequencing and pyrosequencing for the exact quantification of DNA methylation patterns with single CpG resolution [J]. BMC Biotechnol,2011,11:6.
30
Feliubadaló L,Lopez-Doriga A,Castellsagué E,et al. Nextgeneration sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes[J].Eur J Hum Genet,2013,21(8):864-870.
31
Ren X,Yang F,Hu Y,et al.Full genome of influenza A(H7N9)virus derived by direct sequencing without culture [J]. Emerg Infect Dis,2013,19(11):1881-1884.
32
Kahvejian A,Quackenbush J,Thompson JF.What would you do if you could sequence everything[J]?Nat Biotechnol,2008,26(10):1125-1133.
33
国家食品药品监督管理总局,国家卫生和计划计生育委员会. 关于加强临床使用基因测序相关产品和技术管理的通知.2014-02-09.
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