外显子测序技术在人类疾病中的应用研究
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摘要
随着分子遗传学技术的迅速发展,因大部分遗传性疾病的致病性基因突变集中于约1%的外显子区,故外显子测序技术在医学研究领域的应用越来越广泛,其被广泛应用于肿瘤等人类复杂疾病、单基因遗传病及动植物领域的研究。本文旨在总结外显子测序技术在人类疾病中的应用研究。
With the rapid development of molecular genetics technology, the pathogenic gene mutation of most hereditary diseases is concentrated in about 1% of the exome region, so the application of exome sequencing technology in medical research is more and more extensive. It is widely used in the study of human complex diseases such as tumors and monogenic genetic diseases,as well as in the field of animals and plants. This paper aims to summarize the application of exome sequencing technology in human diseases.
With the rapid development of molecular genetics technology, the pathogenic gene mutation of most hereditary diseases is concentrated in about 1% of the exome region, so the application of exome sequencing technology in medical research is more and more extensive. It is widely used in the study of human complex diseases such as tumors and monogenic genetic diseases,as well as in the field of animals and plants. This paper aims to summarize the application of exome sequencing technology in human diseases.
引文
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[2]Hedges DJ,Burges D,Powell E,et al.Exome sequencing of a multigenerational human pedigree[J]. PLo S one,4(12):e8232.
[3]NG SB,TURNER EH,ROBERTSON PD,et al. Targeted capture and massivelyparallel sequencing of 12 human exomes[J].Nature,2009,461(7261):272-6.
[4]陆树健.人类全基因组外显子芯片检测口腔癌单核苷酸多态性的初步研究[D].广西医科大学,2014.
[5]李丹丹.二代测序技术在t(8;21)AML中的应用及Ezh1促进白血病的作用研究[D].中国人民解放军医学院,2015.
[6]江一舟.乳腺癌新辅助化疗前后基因变异检测及其功能论证[D].复旦大学,2014.
[7]王潇.新一代测序技术对宣威肺癌全基因组和全外显子组的研究[D].昆明医科大学,2015.
[8]银波.遗传性非息肉型结直肠癌一家系全外显子组测序分析[D].中南大学,2014.
[9]Calvert N,Wu J,Sneddon S,etal. The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivitytesting in sarcoma[J]. Clinical Sarcoma Research,2018,8:4.
[10] Erinjeri NJ,Nicolson NG,DeyholosC,et al. Whole-exome sequencing identifies two discrete druggable signaling pathways in follicular thyroid cancer[J]. Journal of the American College of Surgeons,2018,226(6):950-959.
[11] Kyker-Snowman K,Erlanger AvigdorB,NasimM,et al. A primary breast cancer with distinct foci of estrogen receptor-alpha positive and negative cells derived from the same clonal origin as revealed by whole exome sequencing[J]. Breast Cancer Research Treat,2018,170(2):425-430.
[12] WenYe,ShaopingLing,Ran-YiLiu,etal. Exome sequencing reveals the genetic landscape and frequent inactivation of PCDHB3in Chinese rectal cancers[J]. The Journal Of Pathology,2018,245(2):222-234.
[13] ObergJA,Glade Bender JL,SulisML,etal. Implementation of next generation sequencing into pediatric hematology-oncology practice:moving beyond actionable alterations[J]. Genome Medicine 2016,8(1):133.
[14] XuY,LiT,PuT,etal. Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease[J]. Twin Res Hum Genet.,2017,20(6):521-532.
[15] Lin Y,He S,Liao Z,etal. Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death[J]. Journal of Electrocardiology,2018,51(2):309-315.
[16] PeruccaP,SchefferIE,HarveyAS,et al.Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy[J]. Epilepsy Research,2017,131:1-8.
[17] Salas A,Pardo-Seco J,Cebey-López M,et al. Whole Exome Sequencingrevealsnewcandidategenesinhostgenomic susceptibility to Respiratory Syncytial Virus Disease[J]. Scientific Reports,2017,7(1):15888.
[18] Lein?eE,ZetterbergE,KinalisS,etal.Application of wholeexome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Oresund Region,Scandinavia[J]. British Journal of Haematology,2017,179(2):308-322.
[19] ChouST,FlanaganJM,VegeS,etal.Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia[J].Blood Advances,2017,1(18):1414-1422.
[20] FuS,LeiW,LanlanD,etal. Whole Exome Sequencing identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree[J]. Genetic Testing And Molecular Biomarkers,2017,21(10):580-585.
[21] HuangC,XieL,WuZ,etal. Detection of mutations in MYOC,OPTN,NTF4,WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma usingexomesequencing[J]. Scientific Reports,2018,8(1):4498.
[22]杨锐林.家族性隐睾外显子组测序分析[D].汕头大学,2011.
[23]杜鹃.斑秃易感位点与中国汉族斑秃人群相关性研究[D].安徽医科大学,2015.
[24]汤洁莹.肝脏局灶性结节性增生的全外显子测序研究[D].北京协和医学院,2015.
[25]李凯.基于全外显子组测序技术筛选痛风相关基因的研究[D].昆明理工大学,2017.
[26]陈亭宇.局灶节段性肾小球硬化致病基因突变研究[D].遵义医学院,2014.
[27]吴佳慧.全基因外显子测序技术探寻川崎病易感基因的研究[D].苏州大学,2016.
[28]许淑芳.全外显子测序等基因分析方法筛选克罗恩病新易感基因的家系研究[D].武汉大学,2014.
[29]赵路阳.全外显子测序技术探寻卵巢子宫内膜异位症致病基因的研究[D].中国人民解放军医学院,2014.
[30]杨璞玉.胎儿先天性心脏病相关拷贝数变异研究[D].首都医科大学,2016.
[31]商丹丹.早发型认知功能障碍四家系致病基因分析[D].郑州大学,2015.
[32] MCKUSICK VA. Mendelian Inheritance in Man and its online version,OMIM[J]. Am J Hum Genet,2007,80(4):588-604.
[33]王文婷. C10ORF2,HELQ和PRIM1基因在原发性卵巢功能不全中的作用和相关机制研究[D].山东大学,2016.
[34]刘宸箐.百岁老人听觉状况调查和耳聋家系致病基因检测研究[D].中国人民解放军医学院,2015.
[35]赵飞帆.隐性遗传性耳聋外显子测序技术基因鉴定及基因型与表型关联研究[D].中国人民解放军军医进修学院,2012.
[36]吴正胜.中国弹力纤维假黄瘤临床病理特征与ABCC6基因新致病性突变的研究[D].第四军医大学,2014.
[37] Bian X,LinP,Li J,et al. Whole-Genome Linkage Analysis with WholeExome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with CharcotMarie-Tooth 2:A Novel Variant in NEFH for Charcot-Marie-Tooth 2. NeurodegenerDis,2018,18(2-3):74-83.
[38]卓木清. CaBP4基因突变在常染色体显性遗传夜发性额叶癫痫中的电生理功能研究[D].南方医科大学,2015.
[39]孙亚方. Paget骨病家系相关基因筛查及候选基因功能研究[D].济南大学,2013.
[40]史长河.发作性运动诱发性运动障碍PRRT2基因突变分析与基因型-表型关系研究[A].中华医学会(Chinese Medical Association)、中华医学会神经病学分会.中华医学会第十七次全国神经病学学术会议论文汇编(下)[C].中华医学会(Chinese Medical Association)、中华医学会神经病学分会,2014:2.
[41]关文娟.脊髓小脑性共济失调35型致病基因TGM6的细胞功能研究[D].中南大学,2013.
[42]陈明飞.屈侧网状色素异常症致病基因全基因组外显子测序搜寻及POFUT1基因突变分折[D].安徽医科大学,2015.
[43]张鑫.全基因组外显子测序发现Marie Unna遗传性少毛症致病基因EPS8L3[D].安徽医科大学,2012.
[44]章雪敏.一个常染色体显性遗传视网膜色素变性家系SNRNP200新突变位点定位[D].中国人民解放军医学院,2012.
[45]柳明玉.一个多巴反应性肌张力障碍家系基因突变筛查研究[D].华南理工大学,2015.
[46]陈志红.遗传性癫痫伴热性惊厥附加症新致病基因的捕获及验证[D].南方医科大学,2015.
[47]欧明林.石骨症发病的分子机制研究[D].重庆医科大学,2014.
[48]王春林. X染色体隐性遗传性生长激素缺乏症家系候选基因定位研究[D].浙江大学,2012.
[49]辜清泉,杨琳,杨旭.外显子测序技术在疾病研究中的应用[J].分子诊断与治疗杂志,2011,3(05):334-338.
[50] Ng SB,Tumer EH,Robertson PD,etal. Targeted capture and massively parallel sequencing of 12 human exomes[J]. Nature.2009,461(7261):272-276.
[2]Hedges DJ,Burges D,Powell E,et al.Exome sequencing of a multigenerational human pedigree[J]. PLo S one,4(12):e8232.
[3]NG SB,TURNER EH,ROBERTSON PD,et al. Targeted capture and massivelyparallel sequencing of 12 human exomes[J].Nature,2009,461(7261):272-6.
[4]陆树健.人类全基因组外显子芯片检测口腔癌单核苷酸多态性的初步研究[D].广西医科大学,2014.
[5]李丹丹.二代测序技术在t(8;21)AML中的应用及Ezh1促进白血病的作用研究[D].中国人民解放军医学院,2015.
[6]江一舟.乳腺癌新辅助化疗前后基因变异检测及其功能论证[D].复旦大学,2014.
[7]王潇.新一代测序技术对宣威肺癌全基因组和全外显子组的研究[D].昆明医科大学,2015.
[8]银波.遗传性非息肉型结直肠癌一家系全外显子组测序分析[D].中南大学,2014.
[9]Calvert N,Wu J,Sneddon S,etal. The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivitytesting in sarcoma[J]. Clinical Sarcoma Research,2018,8:4.
[10] Erinjeri NJ,Nicolson NG,DeyholosC,et al. Whole-exome sequencing identifies two discrete druggable signaling pathways in follicular thyroid cancer[J]. Journal of the American College of Surgeons,2018,226(6):950-959.
[11] Kyker-Snowman K,Erlanger AvigdorB,NasimM,et al. A primary breast cancer with distinct foci of estrogen receptor-alpha positive and negative cells derived from the same clonal origin as revealed by whole exome sequencing[J]. Breast Cancer Research Treat,2018,170(2):425-430.
[12] WenYe,ShaopingLing,Ran-YiLiu,etal. Exome sequencing reveals the genetic landscape and frequent inactivation of PCDHB3in Chinese rectal cancers[J]. The Journal Of Pathology,2018,245(2):222-234.
[13] ObergJA,Glade Bender JL,SulisML,etal. Implementation of next generation sequencing into pediatric hematology-oncology practice:moving beyond actionable alterations[J]. Genome Medicine 2016,8(1):133.
[14] XuY,LiT,PuT,etal. Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease[J]. Twin Res Hum Genet.,2017,20(6):521-532.
[15] Lin Y,He S,Liao Z,etal. Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death[J]. Journal of Electrocardiology,2018,51(2):309-315.
[16] PeruccaP,SchefferIE,HarveyAS,et al.Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy[J]. Epilepsy Research,2017,131:1-8.
[17] Salas A,Pardo-Seco J,Cebey-López M,et al. Whole Exome Sequencingrevealsnewcandidategenesinhostgenomic susceptibility to Respiratory Syncytial Virus Disease[J]. Scientific Reports,2017,7(1):15888.
[18] Lein?eE,ZetterbergE,KinalisS,etal.Application of wholeexome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Oresund Region,Scandinavia[J]. British Journal of Haematology,2017,179(2):308-322.
[19] ChouST,FlanaganJM,VegeS,etal.Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia[J].Blood Advances,2017,1(18):1414-1422.
[20] FuS,LeiW,LanlanD,etal. Whole Exome Sequencing identified a Novel IGFBP6 Variant in a Disc Degeneration Pedigree[J]. Genetic Testing And Molecular Biomarkers,2017,21(10):580-585.
[21] HuangC,XieL,WuZ,etal. Detection of mutations in MYOC,OPTN,NTF4,WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma usingexomesequencing[J]. Scientific Reports,2018,8(1):4498.
[22]杨锐林.家族性隐睾外显子组测序分析[D].汕头大学,2011.
[23]杜鹃.斑秃易感位点与中国汉族斑秃人群相关性研究[D].安徽医科大学,2015.
[24]汤洁莹.肝脏局灶性结节性增生的全外显子测序研究[D].北京协和医学院,2015.
[25]李凯.基于全外显子组测序技术筛选痛风相关基因的研究[D].昆明理工大学,2017.
[26]陈亭宇.局灶节段性肾小球硬化致病基因突变研究[D].遵义医学院,2014.
[27]吴佳慧.全基因外显子测序技术探寻川崎病易感基因的研究[D].苏州大学,2016.
[28]许淑芳.全外显子测序等基因分析方法筛选克罗恩病新易感基因的家系研究[D].武汉大学,2014.
[29]赵路阳.全外显子测序技术探寻卵巢子宫内膜异位症致病基因的研究[D].中国人民解放军医学院,2014.
[30]杨璞玉.胎儿先天性心脏病相关拷贝数变异研究[D].首都医科大学,2016.
[31]商丹丹.早发型认知功能障碍四家系致病基因分析[D].郑州大学,2015.
[32] MCKUSICK VA. Mendelian Inheritance in Man and its online version,OMIM[J]. Am J Hum Genet,2007,80(4):588-604.
[33]王文婷. C10ORF2,HELQ和PRIM1基因在原发性卵巢功能不全中的作用和相关机制研究[D].山东大学,2016.
[34]刘宸箐.百岁老人听觉状况调查和耳聋家系致病基因检测研究[D].中国人民解放军医学院,2015.
[35]赵飞帆.隐性遗传性耳聋外显子测序技术基因鉴定及基因型与表型关联研究[D].中国人民解放军军医进修学院,2012.
[36]吴正胜.中国弹力纤维假黄瘤临床病理特征与ABCC6基因新致病性突变的研究[D].第四军医大学,2014.
[37] Bian X,LinP,Li J,et al. Whole-Genome Linkage Analysis with WholeExome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with CharcotMarie-Tooth 2:A Novel Variant in NEFH for Charcot-Marie-Tooth 2. NeurodegenerDis,2018,18(2-3):74-83.
[38]卓木清. CaBP4基因突变在常染色体显性遗传夜发性额叶癫痫中的电生理功能研究[D].南方医科大学,2015.
[39]孙亚方. Paget骨病家系相关基因筛查及候选基因功能研究[D].济南大学,2013.
[40]史长河.发作性运动诱发性运动障碍PRRT2基因突变分析与基因型-表型关系研究[A].中华医学会(Chinese Medical Association)、中华医学会神经病学分会.中华医学会第十七次全国神经病学学术会议论文汇编(下)[C].中华医学会(Chinese Medical Association)、中华医学会神经病学分会,2014:2.
[41]关文娟.脊髓小脑性共济失调35型致病基因TGM6的细胞功能研究[D].中南大学,2013.
[42]陈明飞.屈侧网状色素异常症致病基因全基因组外显子测序搜寻及POFUT1基因突变分折[D].安徽医科大学,2015.
[43]张鑫.全基因组外显子测序发现Marie Unna遗传性少毛症致病基因EPS8L3[D].安徽医科大学,2012.
[44]章雪敏.一个常染色体显性遗传视网膜色素变性家系SNRNP200新突变位点定位[D].中国人民解放军医学院,2012.
[45]柳明玉.一个多巴反应性肌张力障碍家系基因突变筛查研究[D].华南理工大学,2015.
[46]陈志红.遗传性癫痫伴热性惊厥附加症新致病基因的捕获及验证[D].南方医科大学,2015.
[47]欧明林.石骨症发病的分子机制研究[D].重庆医科大学,2014.
[48]王春林. X染色体隐性遗传性生长激素缺乏症家系候选基因定位研究[D].浙江大学,2012.
[49]辜清泉,杨琳,杨旭.外显子测序技术在疾病研究中的应用[J].分子诊断与治疗杂志,2011,3(05):334-338.
[50] Ng SB,Tumer EH,Robertson PD,etal. Targeted capture and massively parallel sequencing of 12 human exomes[J]. Nature.2009,461(7261):272-276.