期刊文献+

27重SNP种族推断体系准确性验证研究 被引量:14

The evaluation of the effectiveness and accuracy for a 27-plex SNP assay
原文传递
导出
摘要 目的验证所构建27重SNP复合检测体系,用于东亚、欧洲、非洲及其混合人群种族推断的有效性和正确性。方法国内7家单位的实验室提供盲测样本316份,由本中心实验室利用构建的27重复合SNP检测体系,使用毛细管电泳对样本进行检测。结果 316份样本检测结果与样本的已知祖先来源的一致性为99.37%。结论该体系可以有效区分洲际人群的祖先来源,为案件侦查提供重要的科学线索。 Objective We constructed a 27-plex SNP assay for the inference of East Asian, European, African and mixture populations. In this paper, we evaluated the effectiveness and accuracy of the 27-plex SNP assay by blind test. Method We tested 316 individuals from 7 different labs of China using the 27-plex SNP assay. The SNP genotype can be assayed by capillary electrophoresis. Result 99. 37% of the prediction results are in concordance with the known ancestry of these samples. Conclusion The results demonstrated that the 27-plex SNP assay can be effectively used to analyze the genetic continental components of a population and infer the ancestral origin of a DNA sample. It can provide important scientific clues for case investigation.
出处 《中国法医学杂志》 CSCD 2015年第6期563-566,共4页 Chinese Journal of Forensic Medicine
基金 北京市科技创新基地培育与发展工程项目(Z141106004414084) 公安部法医遗传学公安部重点实验室开放课题(2014FGKFKT04)
关键词 法医物证学 SNPS 复合扩增 种族推断 forensic evidence, SNPs, multiplex system, race inference
  • 相关文献

参考文献8

  • 1Sabeti P C,Varilly P,Fry B,et al.Genome-wide detection and characterization of positive selection in human populations[J].Nature,2007,449(7164):913-918.
  • 2Galanter J M,Fernandez-Lopez J C,Gignoux C R,et al.Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas[J].PLo S Genet,2012,8(3)e1002554.
  • 3Tishkoff S A,Reed F A,Friedlaender F R,et al.The genetic structure and history of Africans and African Americans[J].Science,2009,324:1035-1044.
  • 4Phillips C.,Salas A.,Sanchez J.J.,et al.Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs[J].Forensic Sci.Int.Genet.2007 Dec;1(3):273-280.
  • 5Frudakis T,Venkateswarlu K,Thomas M J,et al.A classifier for the SNP-based inference of ancestry[J].J Forensic Sci,2003,48(4):771-782.
  • 6Jia Jing,Wei Yi Liang,Qin Cui Jiao,et al.Developing a novel panel of genome-wide ancestry informative markers for bio-geographical ancestry estimates[J].Forensic Sci Int Genet,2014,8(1):187-194.
  • 7Wei Yi Liang,Wei Li,Zhao Lei,et al.A single-tube 27-plex SNP assay for estimating individual ancestry and admixture from three continents[J].International Journal of Legal Medicine.2015,2,on line.
  • 8李彩霞,贾竟,魏以梁,万立华,胡兰,叶健.30个祖先信息位点的筛选及应用[J].遗传,2014,36(8):779-785. 被引量:14

二级参考文献13

  • 1Phillips C,Salas A,Sánchez JJ,Fondevila M,Gómez-Tato A,Alvarez-Dios J,Calaza M,de Cal MC,Ballard D,Lareu MV,Carracedo A; SNPforID Consortium.Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs.Forensic Sci Int Genet,2007,1(3-4):273-280.
  • 2Kayser M,Schneider PM.DNA-based prediction of human externally visible characteristics in forensics:motivations,scientific challenges,and ethical considerations.Forensic Sci Int Genet,2009,3(3):154-161.
  • 3Rosenberg NA,Pritchard JK,Weber JL,Cann HM,Kidd KK,Zhivotovsky LA,Feldman MW.Genetic structure of human populations.Science,298(5602):2381-2385.
  • 4Halder I,Shriver M,Thomas M,Fernandez JR,Frudakis T.A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents:utility and applications.Hum Mutat,2008,29(5):648-658.
  • 5Sabeti PC,Varilly P,Fry B,Lohmueller J,Hostetter E,Cot-sapas C,Xie X,Byrne EH,McCarroll SA,Gaudet R,Schaffner S F,Lander E S; Intemational HapMap Consortium,Frazer KA,Ballinger DG,Cox DR,Hinds DA,Stuve LL,Gibbs RA,Belmont JW,Boudreau A,Hardenbol P,Leal SM,Pasternak S,Wheeler DA,Willis TD,Yu F,Yang H,Zeng C,Gao Y,Hu H,Hu W,Li C,Lin W,Liu S,Pan H,Tang X,Wang J,Wang W,Yu J,Zhang B,Zhang Q,Zhao H,Zhao H,Zhou J,Gabriel SB,Barry R,Blumenstiel B,Camargo A,Defelice M,Faggart M,Goyette M,Gupta S,Moore J,Nguyen H,Onofrio RC,Parkin M,Roy J,Stahl E,Winchester E,Ziaugra L,Altshuler D,Shen Y,Yao Z,Huang W,Chu X,He Y,Jin L,Liu Y,Shen Y,Sun W,Wang H,Wang Y,Wang Y,Xiong X,Xu L,Waye MM,Tsui SK,Xue H,Wong JT,Galver LM,Fan JB,Gunderson K,Murray SS,Oliphant AR,Chee MS,Montpetit A,Chagnon F,Ferretti V,Leboeuf M,Olivier JF,Phillips MS,Roumy S,Sallée C,Vemer A,Hudson T J,Kwok PY,Cai D,Koboldt DC,Miller RD,Pawlikowska L,Taillon-Miller P,Xiao M,Tsui LC,Mak W,Song YQ,Tam PK,Nakamura Y,Kawaguchi T,Kitamoto T,Morizono T,Nagashima A,Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Del-oukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I,Price A, Purcell S, Richter D J, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas D J, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter D J, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R,Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. Genome-wide detec- tion and characterization of positive selection in human populations. Nature, 2007, 449(7164): 913-918.
  • 6Lao O,de Gruijter JM,van Duijn K,Navarro A,Kayser M.Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.Ann Hum Genet,2007,71(Pt 3):354-369.
  • 7Cockerham CC.Analyses of gene frequencies.Genetics,1973,74(4):679-700.
  • 8Pritchard JK,Stephens M,Donnelly P.Inference of population structure using multilocus genotype data.Genetics,2000,155(2):945-959.
  • 9Fondevila M,Phillips C,Santos C,Freire Aradas A,Vallone PM,Butler JM,Lareu MV,Carracedo A.Revision of the SNPforID 34-plex forensic ancestry test:Assay enhancements,standard reference sample genotypes and extended population studies.Forensic Sci Int Genet,2013,7(1):63-74.
  • 10Qin P,Li Z,Jin W,Lu D,Lou H,Shen J,Jin L,Shi Y,Xu S.A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese.Eur JHum Genet,2014,22(2):248-253.

共引文献13

同被引文献90

引证文献14

二级引证文献49

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部