Population genetic analysis of 36 Y-chromosomal STRs yields comprehensive insights into the forensic features and phylogenetic relationship of Chinese Tai-Kadai-speaking Bouyei

Autoři: Ya Luo aff001;  Yan Wu aff002;  Enfang Qian aff001;  Qian Wang aff002;  Qiyan Wang aff001;  Hongling Zhang aff001;  Xiaojuan Wang aff001;  Han Zhang aff001;  Meiqing Yang aff001;  Jingyan Ji aff001;  Zheng Ren aff001;  Ying Zhang aff002;  Jing Tang aff002;  Jiang Huang aff001
Působiště autorů: Department of Forensic Medicine, Guizhou Medical University, Guiyang, Guizhou, China aff001;  Guiyang Judicial Expertise Center of Public Security, Guiyang, Guizhou, China aff002
Vyšlo v časopise: PLoS ONE 14(11)
Kategorie: Research Article
doi: 10.1371/journal.pone.0224601


Male-specifically inherited Y-STRs, harboring the features of haploidy and lack of crossing over, have gained considerable attention in population genetics and forensic investigations. Goldeneye® Y-PLUS kit was a recently developed amplification system focused on the genetic diversity of 36 Y-chromosomal short tandem repeats (Y-STRs) in East Asians. However, no population data and corresponding forensic features were reported in China. Here, 36 Y-STRs were first genotyped in 400 unrelated healthy Tai-Kadai-speaking Bouyei male individuals. A total of 371 alleles and 396 haplotypes could be detected, and the allelic frequencies ranged from 0.0025 to 0.9875. The haplotype diversity, random match probability and discrimination capacity values were 0.9999, 0.0026 and 0.9900, respectively. The gene diversity (GD) of 36 Y-STR loci in the studied group ranged from 0.0248 (DYS645) to 0.9601 (DYS385a/b). Population comparisons between the Guizhou Bouyei and 80 reference groups were performed via the AMOVA, MDS, and phylogenetic relationship reconstruction. The results showed that the population stratification was almost consistent with the geographic distribution and language-family, both among Chinese and worldwide ethnic groups. Our newly genotyped Bouyei samples show a close affinity with other Tai-Kadai-speaking groups in China and Southeast Asia. Our data may provide useful information for paternal lineage in the forensic application and population genetics, as well as evidence for archaeological and historical research.

Klíčová slova:

Forensics – Genetic loci – Han Chinese people – Haplotypes – China – Chinese people – Phylogeography – Population genetics


1. Prinz M, Boll K, Baum H, Shaler B. Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int. 1997; 85: 209–218. doi: 10.1016/s0379-0738(96)02096-8 9149405

2. Jobling MA, Gill P. Encoded evidence: DNA in forensic analysis. Nat Rev Genet. 2004;5(10):739–51. doi: 10.1038/nrg1455 15510165

3. Purps J, Siegert S, Willuweit S, Nagy M, Alves C, Salazar R, et al. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci Int Genet. 2014;12:12–23. doi: 10.1016/j.fsigen.2014.04.008 24854874

4. Thompson JM, Ewing MM, Frank WE, Pogemiller JJ, Nolde CA, Koehler DJ, et al. Developmental validation of the PowerPlex(R) Y23 System: a single multiplex Y-STR analysis system for casework and database samples. Forensic Sci Int Genet. 2013;7(2):240–50. doi: 10.1016/j.fsigen.2012.10.013 23337322

5. Gopinath S, Zhong C, Nguyen V, Ge J, Lagace RE, Short ML, et al. Developmental validation of the Yfiler((R)) Plus PCR Amplification Kit: An enhanced Y-STR multiplex for casework and database applications. Forensic Sci Int Genet. 2016;24:164–75. doi: 10.1016/j.fsigen.2016.07.006 27459350

6. Kayser M. Forensic use of Y-chromosome DNA: a general overview. Hum Genet. 2017;136(5):621–35. doi: 10.1007/s00439-017-1776-9 28315050

7. Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A, et al. A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet. 2012;6(2):208–18. doi: 10.1016/j.fsigen.2011.04.017 21612995

8. Nothnagel M, Fan G, Guo F, He Y, Hou Y, Hu S, et al. Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes. Hum Genet. 2017;136(5): 485–97. doi: 10.1007/s00439-017-1759-x 28138773

9. Ren Z, Zhang H, Liu Y, Wang Q, Wang J, Huang J. Population genetic data of 22 autosomal STRs in Guizhou Bouyei population, Southwestern China. Forensic Sci Int Genet. 2018;33:e11–e2. doi: 10.1016/j.fsigen.2017.12.001 29246802

10. He G, Li Y, Wang Z, Liang W, Luo H, Liao M, et al. Genetic diversity of 21 autosomal STR loci in the Han population from Sichuan province, Southwest China. Forensic Sci Int Genet. 2017;31:e33–e5. doi: 10.1016/j.fsigen.2017.07.006 28743451

11. He G, Li Y, Zou X, Wang M, Chen P, Liao M, et al. Genetic polymorphisms for 19 X-STR loci of Sichuan Han ethnicity and its comparison with Chinese populations. Leg Med (Tokyo). 2017;29:6–12.

12. He G, Wang Z, Wang M, Hou Y. Genetic Diversity and Phylogenetic Differentiation of Southwestern Chinese Han: a comprehensive and comparative analysis on 21 non-CODIS STRs. Sci Rep. 2017;7(1):13730. doi: 10.1038/s41598-017-13190-w 29061987

13. Guo H, Yan J, Jiao Z, Tang H, Zhang Q, Zhao L, et al. Genetic polymorphisms for 17 Y-chromosomal STRs haplotypes in Chinese Hui population. Leg Med (Tokyo). 2008;10(3):163–9.

14. Wu W, Pan L, Hao H, Zheng X, Lin J, Lu D. Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China. Forensic Sci Int Genet. 2011;5(1):e11–3. doi: 10.1016/j.fsigen.2009.12.005 20457064

15. Zhu B, Shen C, Xun X, Yan J, Deng Y, Zhu J, et al. Population genetic polymorphisms for 17 Y-chromosomal STRs haplotypes of Chinese Salar ethnic minority group. Leg Med (Tokyo). 2007;9(4):203–9.

16. Nei M. Molecular Evolutionary Genetics. New York: Columbia University Press; 1987

17. Willuweit S, Roewer L. The new Y Chromosome Haplotype Reference Database. Forensic Sci Int Genet. 2015;15:43–8. doi: 10.1016/j.fsigen.2014.11.024 25529991

18. Bai R, Liu Y, Zhang J, Shi M, Dong H, Ma S, et al. Analysis of 27 Y-chromosomal STR haplotypes in a Han population of Henan province, Central China. Int J Legal Med. 2016;130(5):1191–4. doi: 10.1007/s00414-016-1326-3 26932866

19. Wang L, Chen F, Kang B, Zheng H, Zhao Y, Li L, et al. Genetic population data of Yfiler Plus kit from 1434 unrelated Hans in Henan Province (Central China). Forensic Sci Int Genet. 2016;22:e25–e7. doi: 10.1016/j.fsigen.2016.02.009 26922336

20. Tao R, Wang S, Zhang J, Zhang J, Yang Z, Zhang S, et al. Genetic characterization of 27 Y-STR loci analyzed in the Nantong Han population residing along the Yangtze Basin. Forensic Sci Int Genet. 2019;39:e10–e3. doi: 10.1016/j.fsigen.2018.11.015 30503807

21. Zhou Y, Shao C, Li L, Zhang Y, Liu B, Yang Q, et al. Genetic analysis of 29 Y-STR loci in the Chinese Han population from Shanghai. Forensic Sci Int Genet. 2018;32:e1–e4. doi: 10.1016/j.fsigen.2017.11.003 29150183

22. Wang J, Wen S, Shi M, Liu Y, Zhang J, Bai R, et al. Haplotype structure of 27 Yfiler((R))Plus loci in Chinese Dongxiang ethnic group and its genetic relationships with other populations. Forensic Sci Int Genet. 2018;33:e13–e6. doi: 10.1016/j.fsigen.2017.12.014 29402655

23. Liu Y, Wen S, Guo L, Bai R, Shi M, Li X. Haplotype data of 27 Y-STRs analyzed in the Hui and Tujia ethnic minorities from China. Forensic Sci Int Genet. 2018;35:e7–e9. doi: 10.1016/j.fsigen.2018.04.006 29685746

24. Fan H, Wang X, Chen H, Zhang X, Huang P, Long R, et al. Population analysis of 27 Y-chromosomal STRs in the Li ethnic minority from Hainan province, southernmost China. Forensic Sci Int Genet. 2018;34:e20–e2. doi: 10.1016/j.fsigen.2018.01.007 29409735

25. Song M, Wang Z, Zhang Y, Zhao C, Lang M, Xie M, et al. Forensic characteristics and phylogenetic analysis of both Y-STR and Y-SNP in the Li and Han ethnic groups from Hainan Island of China. Forensic Sci Int Genet. 2019;39:e14–e20. doi: 10.1016/j.fsigen.2018.11.016 30522950

26. Fan H, Wang X, Chen H, Long R, Liang A, Li W, et al. The evaluation of forensic characteristics and the phylogenetic analysis of the Ong Be language-speaking population based on Y-STR. Forensic Sci Int Genet. 2018;37:e6–e11. doi: 10.1016/j.fsigen.2018.09.008 30279073

27. Cao S, Bai P, Zhu W, Chen D, Wang H, Jin B, et al. Genetic portrait of 27 Y-STR loci in the Tibetan ethnic population of the Qinghai province of China. Forensic Sci Int Genet. 2018;34:e18–e9. doi: 10.1016/j.fsigen.2018.02.005 29514769

28. Fan GY, An YR, Peng CX, Deng JL, Pan LP, Ye Y. Forensic and phylogenetic analyses among three Yi populations in Southwest China with 27 Y chromosomal STR loci. Int J Legal Med. 2019;133(3):795–7. doi: 10.1007/s00414-018-1984-4 30560493

29. Guo F, Li J, Chen K, Tang R, Zhou L. Population genetic data for 27 Y-STR loci in the Zhuang ethnic minority from Guangxi Zhuang Autonomous Region in the south of China. Forensic Sci Int. Genet. 2017;27:182–183. doi: 10.1016/j.fsigen.2016.11.009 27919780

30. Jankauskiene J, Kukiene J, Ivanova V, Aleknaviciute G. Population data and forensic genetic evaluation with the Yfiler™ Plus PCR Amplification kit in the Lithuanian population. Forensic Science International: Genetics Supplement Series. 2017;6:e606–e7.

31. D'Atanasio E, Iacovacci G, Pistillo R, Bonito M, Dugoujon JM, Moral P, et al. Rapidly mutating Y-STRs in rapidly expanding populations: Discrimination power of the Yfiler Plus multiplex in northern Africa. Forensic Sci Int Genet. 2019;38:185–94. doi: 10.1016/j.fsigen.2018.11.002 30419518

32. Iacovacci G, D'Atanasio E, Marini O, Coppa A, Sellitto D, Trombetta B, et al. Forensic data and microvariant sequence characterization of 27 Y-STR loci analyzed in four Eastern African countries. Forensic Sci Int Genet. 2017;27:123–31. doi: 10.1016/j.fsigen.2016.12.015 28068531

33. Rapone C, D'Atanasio E, Agostino A, Mariano M, Papaluca MT, Cruciani F, et al. Forensic genetic value of a 27 Y-STR loci multiplex (Yfiler((R)) Plus kit) in an Italian population sample. Forensic Sci Int Genet. 2016;21:e1–5. doi: 10.1016/j.fsigen.2015.11.006 26639175

34. Haas C, Wangensteen T, Giezendanner N, Kratzer A, Bar W. Y-chromosome STR haplotypes in a population sample from Switzerland (Zurich area). Forensic Sci Int. 2006;158(2–3):213–8. doi: 10.1016/j.forsciint.2005.04.036 15964729

35. Aliferi A, Thomson J, McDonald A, Paynter VM, Ferguson S, Vanhinsbergh D, et al. UK and Irish Y-STR population data-A catalogue of variant alleles. Forensic Sci Int Genet. 2018;34:e1–e6. doi: 10.1016/j.fsigen.2018.02.018 29506869

36. Wang Y, Zhang YJ, Zhang CC, Li R, Yang Y, Ou XL, et al. Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China. Forensic Sci Int Genet. 2016;21:5–9. doi: 10.1016/j.fsigen.2015.09.013 26619377

37. Lee HY, Park M.J, Chung U, Lee HY, Yang WI, Cho SH, et al. Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father-son pairs. Int J Legal Med. 2007;121(2): 128–35. doi: 10.1007/s00414-006-0130-x 17106736

38. Tamura K, Stecher G, Peterson D, Filipski A, Kumar S. MEGA6: Molecular Evolutionary Genetics Analysis version 6.0. Mol Biol Evol. 2013;30(12):2725–9. doi: 10.1093/molbev/mst197 24132122

39. Wallace B. Molecular Evolutionary Genetics. Journal of Heredity 1988;79(2).

40. Carracedo A, Butler JM, Gusmao L, Linacre A, Parson W, Roewer L, et al. Update of the guidelines for the publication of genetic population data. Forensic Sci Int Genet. 2014;10:A1–2. doi: 10.1016/j.fsigen.2014.01.004 24503419

41. Chen P, He G, Zou X, Zhang X, Li J, Wang Z, et al. Genetic diversities and phylogenetic analyses of three Chinese main ethnic groups in southwest China: A Y-Chromosomal STR study. Sci Rep. 2018;8(1):15339. doi: 10.1038/s41598-018-33751-x 30337624

42. He G, Ren Z, Guo J, Zhang F, Zou X, Zhang H, et al. Population genetics, diversity and forensic characteristics of Tai-Kadai-speaking Bouyei revealed by insertion/deletions markers. Mol Genet Genomics. 2019. Epub 2019/06/15. doi: 10.1007/s00438-019-01584-6 31197471

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2019 Číslo 11