迎接新一代测序时代的到来

doi:10.7504/fk2015120103

摘要/Abstract

摘要：

DNA测序技术的发展为揭开人类和其他生物遗传密码提供了重要技术支撑，是分子生物学及其相关学科研究中最重要的技术之一[1-4]。从20世纪70年第一代测序技术的出现以来，近几年高通量测序技术飞速发展，不仅可以探讨物种基因表达之间的差异，而且为生命科学诸多研究领域提供了强有力的工具。基于新一代测序技术的胚胎植入前遗传学检测技术磅礴发展 [5-6]，使新一代测序技术应用于临床、造福人类取得突破性进展，使得基于芯片平台的微阵列比较基因组杂交技术（array-CGH）在胚胎植入前遗传学检测和产前诊断的应用是否会被新一代测序技术所取代面临前所未有的挑战。

关键词: 新一代测序, 植入前遗传学诊断, 植入前遗传学筛查, 微阵列比较基因组杂交

Key words: new generation sequencing, preimplantation genetic diagnosis, preimplantation genetic screening；array-CGH

中图分类号:

Ｒ321-33

陈子江，颜军昊. 迎接新一代测序时代的到来[J]. 中国实用妇科与产科杂志, 2016, 32(1): 13-15.

参考文献

[1]     Binder PS, Prat J，Mutch DG. The future role of molecular staging in gynecologic cancer[J]. Int J Gynaecol Obstet, 2015, 131 Suppl 2: S127-131.

[2]     孔北华. 卵巢上皮性癌的二元理论和卵巢外起源学说[J]. 中华妇产科杂志, 2013, 48(4): 310-313.

[3]     Romero I，Bast RC. Minireview: human ovarian cancer: biology, current management, and paths to personalizing therapy[J]. Endocrinology, 2012, 153(4): 1593-1602.

[4]     Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma[J]. Nature, 2011, 474(7353): 609-615.

[5]     Cancer Genome Atlas Research Network, Kandoth C, Schultz N, et al. Integrated genomic characterization of endometrial carcinoma[J]. Nature, 2013, 497(7447): 67-73.

[6]     Murali R, Soslow RA,Weigelt B. Classification of endometrial carcinoma: more than two types[J]. Lancet Oncol, 2014, 15(7): e268-278.

[7]     Iida M, Banno K, Yanokura M, et al. Candidate biomarkers for cervical cancer treatment: potential for clinical practice (Review)[J]. Mol Clin Oncol, 2014, 2(5): 647-655.

[8]     Garces AH, Dias MS, Paulino E,et al. Treatment of ovarian cancer beyond chemotherapy: are we hitting the target?[J]. Cancer Chemother Pharmacol, 2015, 75(2): 221-234.

[9]     Burger RA, Brady MF, Bookman MA, et al. Incorporation of bevacizumab in the primary treatment of ovarian cancer[J]. N Engl J Med, 2011, 365(26): 2473-2483.

[10]     Poveda AM, Selle F, Hilpert F, et al. Bevacizumab combined with weekly paclitaxel, pegylated liposomal doxorubicin, or topotecan in platinum-resistant recurrent ovarian cancer: analysis by chemotherapy cohort of the randomized phaseⅢ AURELIA trial[J]. J Clin Oncol, 2015, 33(32): 3836-3838.

[11]     Sessa C. Update on PARP1 inhibitors in ovarian cancer[J]. Ann Oncol, 2011, 22 （Suppl 8）:viii72-viii76.

[12]     Ledermann J, Harter P, Gourley C, et al. Olaparib maintenance therapy in platinum-sensitive relapsed ovarian cancer[J]. N Engl J Med, 2012, 366(15): 1382-1392.

[13]     Kim N, Hong Y, Kwon D,et al. Somatic mutaome profile in human cancer tissues[J]. Genomics Inform, 2013, 11(4): 239-244.

[14]    Levy-Lahad E, Lahad A ,King MC. Precision medicine meets public health: population screening for BRCA1 and BRCA2[J]. J Natl Cancer Inst, 2015, 107(1): 420.

[15]     Ngo C, Samuels S, Bagrintseva K, et al. From prospective biobanking to precision medicine: BIO-RAIDs - an EU study protocol in cervical cancer[J]. BMC Cancer, 2015,15:842.

（2015-12-20 收稿）