Progress and problems of clinical gene sequencing

doi:10.3877/cma.j.jssn.2095-5820.2014.04.005

Abstract

Abstract:

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.

Key words: Gene sequencing, Clinical application, Gene diagnosis

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

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhlcsysgldzzz.cma-cmc.com.cn/EN/10.3877/cma.j.jssn.2095-5820.2014.04.005

https://zhlcsysgldzzz.cma-cmc.com.cn/EN/Y2014/V02/I04/19

References 33

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.

[1]	Minwei Zhao, Xiao Geng, Hongling Chu, Siyan Zhan, Wei Huang, Hua Tian, Kunzheng Wang. Expert consensus on clinical application of 3D printed patient-specific instrumentation for total knee arthroplasty(2023) [J]. Chinese Journal of Joint Surgery(Electronic Edition), 2023, 17(03): 308-310.
[2]	Yuanyuan Xu, Yueqi Zhao, Xue Li, Yan Qu. Research progress on clinical application and mechanism of moxibustion in virus warts [J]. Chinese Journal of Experimental and Clinical Infectious Diseases(Electronic Edition), 2023, 17(06): 390-394.
[3]	Shujun Wang, Chuhan Zhang, Yiyang Tang, Yutong Zhao, Jialun Li, Jiale Fu. Clinical application and prospect of self-adhesive resin cements [J]. Chinese Journal of Stomatological Research(Electronic Edition), 2024, 18(04): 276-286.
[4]	Jiuli Yuan, Dan Liu, Linli Li, Jinyu Liu. Basic research and clinical application of hair follicle-derived mesenchymal stem cells [J]. Chinese Journal of Cell and Stem Cell(Electronic Edition), 2023, 13(03): 189-192.
[5]	Kai Yan, Yong Fu, Zhengtao Zhang. Predictive model of therapeutic effect of middle and advanced liver cancer and research progress of organoid models of liver cancer [J]. Chinese Journal of Hepatic Surgery(Electronic Edition), 2023, 12(03): 348-351.
[6]	Ning Mao, Yong Zhu. Pathogenesis and diagnosis of bile acid diarrhea [J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2022, 11(05): 425-428.
[7]	Chongyang She, Hong Lu. Research progress of Janus kinase inhibitor in the treatment of Juvenile idiopathic arthritis associated uveitis [J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2023, 13(02): 104-108.
[8]	Jiaxi Ma, Qianqian Mi, Yiren Zhou, Dan Wang. Advance on the clinical application of adalimumab in ophthalmology [J]. Chinese Journal of Ophthalmologic Medicine(Electronic Edition), 2022, 12(06): 377-381.
[9]	Shaowei Wu. Recent advance in clinical application of vagus nerve stimulation in improving neurological disorders [J]. Chinese Journal of Brain Diseases and Rehabilitation(Electronic Edition), 2023, 13(03): 180-184.
[10]	Zexue Qi, Lianhui Zhao, Guangchuan Wang, Chunqing Zhang. Discuss of the progress of clinical application of transjugular intrahepatic portal shunt from domestic expert consensus recommendation [J]. Chinese Journal of Digestion and Medical Imageology(Electronic Edition), 2024, 14(03): 193-196.
[11]	Donglei Zhang, Xiaoyan Liu, Sanyun Wu, Yi Zhou, Xian Zhang. Clinical and genetic analysis of a inherit factor Ⅻ deficiency pedigree and analysis of factor Ⅻ deficiency in the Chinese population [J]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2024, 12(03): 162-169.
[12]	Ruihao Wang, Yunlu Jiang, Yanjun Tian. Research progress on the physiological and pathological effects of apelin/APJ system [J]. Chinese Journal of Diagnostics(Electronic Edition), 2024, 12(02): 138-142.
[13]	Yuanyuan Luo, Xin Zeng. Advances in the Research on Transcutaneous Electrical Acustimulation for the Treatment of Gastroesophageal Reflux Disease [J]. Chinese Journal of Gastroesophageal Reflux Disease(Electronic Edition), 2024, 11(01): 40-43.
[14]	Jing Yan, Qi Han, Yuan Jiang. Clinical application value of continuous nursing based on WeChat platform in self-management of obese patients with gastroesophageal reflux disease after operation [J]. Chinese Journal of Gastroesophageal Reflux Disease(Electronic Edition), 2023, 10(04): 216-221.
[15]	Junyan Huo, Yu Fu. Clinical application of detection methods for patent foramen ovale [J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2022, 16(05): 310-313.

Please choose a citation manager

Content to export