Display options
Share it on

J Hum Genet. 2020 May;65(5):461-468. doi: 10.1038/s10038-020-0725-y. Epub 2020 Feb 21.

Ancestry inference and admixture component estimations of Chinese Kazak group based on 165 AIM-SNPs via NGS platform.

Journal of human genetics

Tong Xie, Chunmei Shen, Chao Liu, Yating Fang, Yuxin Guo, Qiong Lan, Lingxiang Wang, Jianye Ge, Yongsong Zhou, Shaoqing Wen, Qing Yang, Bofeng Zhu

Affiliations

  1. Multi-Omics Innovative Research Center of Forensic Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong, PR China.
  2. Institute of Brain and Behavioral Sciences, College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, PR China.
  3. Guangzhou Forensic Science Institute, Guangdong Province Key Laboratory of Forensic Genetics, Guangzhou, Guangdong, PR China.
  4. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, PR China.
  5. College of Medicine & Forensics, Xi'an Jiaotong University Health Science Center, Xi'an, Shaanxi, PR China.
  6. MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, PR China.
  7. Center for Human Identification, University of North Texas Health Science Center, Fort Worth, TX, USA.
  8. Institute of Archaeological Science, Fudan University, Shanghai, PR China.
  9. Thermo Fisher Scientific, Waltham, MN, USA.
  10. Multi-Omics Innovative Research Center of Forensic Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong, PR China. [email protected].
  11. Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, Shaanxi, PR China. [email protected].

PMID: 32081902 DOI: 10.1038/s10038-020-0725-y

Abstract

Predicting the biogeographical ancestries of populations and unknown individuals based on ancestry-informative markers (AIMs) has been widely applied in providing DNA clues to criminal investigations, correcting the factor of population stratification in genome-wide association studies (GWAS), and working as the basis of predicting the externally visible characteristics (EVCs) of individuals. The present study chose Chinese Xinjiang Kazak (XJK) group as research object using a 165 AIM-SNPs panel via next generation sequencing (NGS) technology to reveal its ancestral information and genetic background by referencing the populations' data from 1000 Genomes Phase 3. After the Bonferroni correction, there were no significant deviations at the 165 AIM-SNP loci except two loci with homozygote in the studied XJK group. Ancestry information inference and populations genetic analyses were conducted basing on multiplex statistical methods such as forensic statistical parameter analyses, estimation of the success ratios with cross-validation, population tree, principal component analysis (PCA), and genetic structure analysis. The present results revealed that XJK group had the admixed ancestral components of East Asian and European populations with the ratio of about 62:37.

References

  1. Fordyce SL, Ávila-Arcos MC, Rockenbauer E, Børsting C, Frankhansen R, Petersen FT, Willerslev E, Hansen AJ, Morling N, Gilbert MT. High-throughput sequencing of core STR loci for forensic genetic investigations using the Roche Genome Sequencer FLX platform. Biotechniques. 2011;51:127. - PubMed
  2. Seo SB, King JL, Warshauer DH, Davis CP, Ge J, Budowle B. Single nucleotide polymorphism typing with massively parallel sequencing for human identification. Int J Leg Med. 2013;127:1079–86. - PubMed
  3. Alasfi M, Mcnevin D, Mehta B, Power D, Gahan ME, Daniel R. Assessment of the Precision ID Ancestry panel. Int J Leg Med. 2018;132:1–14. - PubMed
  4. Børsting C, Fordyce SL, Olofsson J, Mogensen HS, Morling N. Evaluation of the Ion Torrent™ HID SNP 169-plex: A SNP typing assay developed for human identification by second generation sequencing. Forensic Science International. Genetics. 2014;12:144. - PubMed
  5. Rockenbauer E, Hansen S, Mikkelsen M, Børsting C, Morling N. Characterization of mutations and sequence variants in the D21S11 locus by next generation sequencing. Forensic Sci Int Genet. 2014;8:68–72. - PubMed
  6. Wang L, Jian YE, Bai X, Yang F, Zhao X. Next generation sequencing and its application in forensic genetics. Forensic Sci Int Genet. 2015;18:78. - PubMed
  7. Wei JCM, Zhao Z, Li SC, Ng YK. NGS-based likelihood ratio for identifying contributors in two- and three-person DNA mixtures. Comput Biol Chem. 2018;74:428–33. - PubMed
  8. Gorden EM, Sturk-Andreaggi K, Marshall C. Repair of DNA damage caused by cytosine deamination in mitochondrial DNA of forensic case samples. Forensic Sci Int Genet. 2018;34:257. - PubMed
  9. Marshall C, Sturk-Andreaggi K, Daniels-Higginbotham J, Oliver RS, Barritt-Ross S, Mcmahon TP. Performance evaluation of a mitogenome capture and Illumina sequencing protocol using non-probative, case-type skeletal samples: Implications for the use of a positive control in a next-generation sequencing procedure. Forensic Science International. Genetics. 2017;31:198. - PubMed
  10. Hanson E, Ingold S, Haas C, Ballantyne J. Messenger RNA biomarker signatures for forensic body fluid identification revealed by targeted RNA sequencing. Forensic Sci Int Genet. 2018;34:206. - PubMed
  11. Phillips C, Salas A, Sánchez JJ, Fondevila M, Gómez-Tato A, Álvarez-Dios J, Calaza M, Cal MCD, Ballard D, Lareu MV. Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs. Forensic Science International. Genetics. 2007;1:273–80. - PubMed
  12. Børsting C, Mikkelsen M, Morling N. Kinship analysis with diallelic SNPs—experiences with the SNPforID Multiplex in an ISO17025 Accreditated Laboratory. Transfus Med Hemotherapy. 2012;39:195–201. - PubMed
  13. Fei G, Zhou Y, He S, Zhao J, Shen H, Zhao B, Feng L, Jiang X. Next generation sequencing of SNPs using the HID-Ion AmpliSeq™ Identity Panel on the Ion Torrent PGM™ platform. Forensic Science International. Genetics. 2016;25:73. - PubMed
  14. Budowle B, Van DA. Forensically relevant SNP classes. Biotechniques. 2008;44:603. - PubMed
  15. Santangelo R, González-Andrade F, Børsting C, Torroni A, Pereira V, Morling N. Analysis of ancestry informative markers in three main ethnic groups from Ecuador supports a trihybrid origin of Ecuadorians. Forensic Sci Int Genet. 2017;31:29. - PubMed
  16. Zheng W, He G, Tao L, Zhao X, Jing L, Wang M, Di Z, Xu C, Li C, Hou Y. Massively parallel sequencing of 165 ancestry informative SNPs in two Chinese Tibetan–Burmese minority ethnicities. Forensic Science International. Genetics. 2018;34:141. - PubMed
  17. Nakanishi H, Pereira V, Børsting C, Yamamoto T, Tvedebrink T, Hara M, Takada A, Saito K, Morling N. Analysis of mainland Japanese and Okinawan Japanese populations using the precision ID Ancestry Panel. Forensic Science International. Genetics. 2017;33:106. - PubMed
  18. Yun L, Gu Y, Rajeevan H, Kidd KK. Application of six IrisPlex SNPs and comparison of two eye color prediction systems in diverse Eurasia populations. Int J Leg Med. 2014;128:447–53. - PubMed
  19. Mao X, Bigham AW, Mei R, Gutierrez G, Weiss KM, Brutsaert TD, Leon-Velarde F, Moore LG, Vargas E, Mckeigue PM. A genomewide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet. 2007;80:1171–8. - PubMed
  20. Epstein MP, Allen AS, Satten GA. A simple and improved correction for population stratification in case-control studies. Am J Hum Genet. 2007;80:921–30. - PubMed
  21. Kidd KK, Speed WC, Pakstis AJ, Furtado MR, Fang R, Madbouly A, Maiers M, Middha M, Friedlaender FR, Kidd JR. Progress toward an efficient panel of SNPs for ancestry inference ☆. Forensic Sci Int Genet. 2014;10:23. - PubMed
  22. Kosoy R, Nassir R, Tian C, White PA, Butler LM, Silva G, Kittles R, Alarcon-Riquelme ME, Gregersen PK, Belmont JW. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat. 2009;30:69–78. - PubMed
  23. Qing-Hu MA, MA Zong-Bao. The Kazak ethnic group ecology culture of materialistic lay discussion. J ILI Norm Univ. 2006;4:27–30. - PubMed
  24. Wei YL, Wei L, Zhao L, Sun QF, Jiang L, Zhang T, Liu HB, Chen JG, Ye J, Hu L. A single-tube 27-plex SNP assay for estimating individual ancestry and admixture from three continents. Int J Leg Med. 2016;130:1–11. - PubMed
  25. Holsinger KE, Weir BS. Genetics in geographically structured populations: defining, estimating and interpreting F(ST). Nat Rev Genet. 2009;10:639. - PubMed
  26. Saitou NNM, Nei MC, Saitou N, Nei M. The neighbor-joining method-a new method for reconstructing phylogenetic trees. Mol Biol Evol. 1987;4:406–25. - PubMed
  27. Excoffier L, Lischer HE. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour. 2010;10:564. - PubMed
  28. Grant JR, Arantes AS, Liao X, Stothard P. In-depth annotation of SNPs arising from resequencing projects using NGS-SNP. Bioinformatics. 2011;27:2300–1. - PubMed
  29. Yao YG, Kong QP, Wang CY, Zhu CL, Zhang YP. Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Molecular Biology &. Evolution. 2004;21:2265–80. - PubMed
  30. Bruyn AD, Martin DP, Lefeuvre P. Phylogenetic Reconstruction Methods: An Overview[J]. Methods in molecular biology (Clifton, NJ), 2014;1115:257–77. - PubMed
  31. Boyle EE, Adamowicz SJ. Community phylogenetics: assessing tree reconstruction methods and the utility of DNA barcodes. Plos ONE. 2015;10:e0126662. - PubMed

MeSH terms

Publication Types