doi:10.3969/j.issn.1674-490X.2018.01.009

Abstract

Abstract: Recently,high-throughput sequencing technology has been widely applied in clinical research owing to its high efficiency,low cost and good specificity.This technology plays a key role in the field of reproductive genetic testing such as noninvasive prenatal testing,pre-implantation genetic diagnosis and screening as well as the detection of DNA methylation.This review mainly summarizes the principles and features of the main sequencing platforms,providing a theoretical direction for their applications in the research of precision medicine.

Key words: high-throughput sequencing technology, noninvasive prenatal testing, pre-implantation genetic diagnosis and screening, DNA methylation

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References

[1] LECHLER R,WARRENS A.HLA in Health and Disease[M].2nd ed.San Diego: Academic Press, 2005.
[2] SHENDURE J,JI H.Next-generation DNA sequencing[J].Nat Biotechnol,2008,26(10): 1135-1145.DOI:10.1038/nbt1486.
[3] ROTHBERG J M,LEAMON J H.The development and impact of 454 sequencing[J].Nat Biotechnol,2008,26(10): 1117-1124.DOI:10.1038/nbt1485.
[4] MARDIS E R.Next-generation DNA sequencing methods[J].Annu Rev Genomics Hum Genet,2008,9: 387-402.DOI:10.1146/annurev.genom.9.081307.164359.
[5] EDWARDS D,BATLEY J.Plant genome sequencing: applications for crop improvement[J].Plant Biotechnol J,2014,26(1): 31-37.DOI:10.1111/j.1467-7652.2009.00459.x.
[6] BRUDON M,MEDVEDEV P,STOYE J,et al.A report on the 2009 SIG on short read sequencing and algorithms[J].Bioinformatics,2009,25(21): 2863-2864.DOI:10.1093/bioinformatics/btp525.
[7] 杨烨,刘娟.第二代测序序列比对方法综述[J].武汉大学学报(理学版),2012,58(5): 463-470.
[8] 郑静,卓越,李彩玉,等.产前筛查、无创DNA产前检测与改良的羊水产前诊断比较分析[J].中国妇幼保健,2015,30(34): 6063-6066.DOI:10.7620/zgfybj.j.issn.1001-4411.2015.34.50.
[9] LO Y M,CORBETTA N,CHAMBERLAIN P F,et al.Presence of fetal DNA in maternal plasma and serum[J].Lancet,1997,350: 485-487.
[10] 贾蓓,钟梅.高通量测序技术在无创产前检测中的应用[J].中国实用妇科与产科杂志, 2015,31(9): 807-810.DOI:10.7504/fk2015080107.
[11] 于文倩,吕远,尹少尉,等.无创产前检测技术在双胎染色体非整倍体疾病筛查中应用研究[J].中国实用妇科与产科杂志,2016,32(10): 986-989.DOI:10.7504/fk2016090116.
[12] 刘思平,贾蓓,肖忠坤.高通量测序技术在妇产与遗传学科方面的应用[J].妇产与遗传,2016,6(3): 56-60.DOI:10.3868/j.issn.2095-1558.2016.03.014.
[13] 柏海燕,田莉,张四林,等.PGD/PGS不同活检时机及检测平台助孕结局比较[J].生殖医学杂志,2017,26(3):232-237.DOI:10.3969/j.issn.1004-3845.2017.03.010.
[14] BREZINA P R,BENNER A,RECHITSKY S,et al.Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy:a novel approach in optimizing pregnancy outcome[J].Fertil Steril,2011,95(5): 5-8.DOI:10.1016/j.fertnstert.2010.11.025.
[15] 徐艳文,黄国宁,孙海翔,等.高通量基因测序植入前胚胎遗传学诊断和筛查技术规范(试行)[J].生殖医学杂志,2017,26(5):391-398.DOI:10.3969/j.issn.1004-3845.2017.05.001.
[16] 海溧,王晓红.胚胎植入前遗传学筛查技术在高龄妇女助孕中的应用[J].中国计划生育和妇产科,2016,8(11): 9-13.DOI:10.3969/j.issn.1674-4020.2016.11.03.
[17] HARDARSON T,HANSON C,LUNDIN K,et al.Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial[J].Hum Reprod,2008,23(12): 2806-2812.
[18] STAESSEN C,PLATTEAU P,VAN ASSCHE E,et al.Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial[J].Hum Reprod,2004,19(12): 2849-2858.
[19] 张静,吕睿,吕永焕,等.胚胎植入前遗传学诊断和筛查的研究进展[J].国际生殖健康/计划生育杂志,2015,34(3): 243-247.DOI:10.3969/j.issn.1673-5293.2016.01.042.
[20] 徐晨明.高通量检测技术在植入前胚胎遗传学诊断中的应用[J].国际生殖健康/计划生育杂志,2013,32(6): 427-432.
[21] ZHANG C,ZHANG C,CHEN S,et al.A single cell level based method for copy numbervariation analysis by low coverage massively parallel sequencing[J].PLoS One,2013,8(1): e54236.DOI:10.1371/journal.pone.0054236.
[22] 葛少钦,李向阳,李建忠,等.DNA甲基化在精子发生中的作用[J].生命的化学, 2012,32(3):221-227.
[23] DHAYALAN A,RAJAVELU A,RATHERT P,et al.The Dnmt3a PWWP domain reads histone 3 lysine 36 trimethylation and guides DNA methylation[J].J Biol Chem,2010,285(34): 26114-26120.DOI:10.1074/jbc.M109.089433.
[24] LI B Z,HUANG Z,CUI Q Y,et al.Histone tails regulate DNA methylation by allosterically activating de novo methyltransferase[J].Cell Res,2011,21(8): 1172-1181.DOI:10.1038/cr.2011.92.
[25] HAWKINS R D,HON G C,LEE L K,et al.Distinct epigenomic landscapes of pluripotent and lineage-committed human cells[J].Cell Stem Cell,2010,6(5):479-491.DOI:10.1016/j.stem.2010.03.018.
[26] LISTER R,PELIZZOLA M,KIDA Y S,et al.Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells[J].Nature,2011,471(7336): 68-73.DOI:10.1038/nature09798.
[27] VAN STEENSEL B.Chromatin: constructing the big picture[J].Embo J,2011,30(10): 1885-1895.DOI:10.1038/emboj.2011.135.
[28] LISTER R,PELIZZOLA M,DOWEN R H,et al.Human DNA methylomes at base resolution show widespread epigenomic differences[J].Nature,2009,462(7271): 315-322.DOI:10.1038/nature08514.
[29] LI Y R,ZHU J D,TIAN G,et al.The DNA methylome of human peripheral blood mononuclear cells[J].PLoS Biol,2010,8(11): e1000533.DOI:10.1371/journal.pbio.1000533.

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