International Journal of Legal Medicine

, Volume 132, Issue 4, pp 1097–1102 | Cite as

Genetic variation and forensic characterization of highland Tibetan ethnicity reveled by autosomal STR markers

  • Guanglin He
  • Zheng Wang
  • Yongdong Su
  • Xing Zou
  • Mengge Wang
  • Jing Liu
  • Yiping Hou
Population Data


Understanding the origin and genetic background of Chinese high-altitude Tibetans play a pivotal role in medical genetics, archeology, anthropology, and forensics. In this study, to investigate the forensic characterization and genetic diversity of Chinese Tibetan, allele frequencies and corresponding forensic statistical parameters of 15 autosomal STRs included in the AmpFℓSTR® Sinofiler™ kit were obtained from 1220 Tibetan individuals residing in Lhasa country, Tibet Autonomous Region. We identified 191 alleles with corresponding allele frequencies varied from 0.0004 to 0.3984. The combined probability of discrimination and the combined probability of exclusion are 0.9999999999999999997 and 0.9999996, respectively. Our study provided the valuable dataset for forensic individual identification and parentage testing in the high-altitude Tibetan population. In addition, comprehensive population comparisons among 30 Chinese populations via PCA, AMOVA, MDS, and N-J tree demonstrated that the genetic components of Tibet Tibetan have received gene introgression from surrounding lowland populations (Such as Gansu Hui and Yunnan Bai) and Tibetan keeps the close genetic relationship with geographic neighboring populations.


Highland Tibetan Short tandem repeats Genetic polymorphism Forensic genetics 



This work received the support of grants from the National Key R&D Program of China (2016YFC0800703) and the National Natural Science Foundation of China (81330073 and 81501635) and the Fundamental Research Funds for the Central Universities.

Authors’ contribution

G.H. and X.Z. wrote the manuscript; Y.S. collected the samples; G.H., X.Z., M.W., and J.L. conducted the experiment and assessed the results; Z.W. modified the manuscript; and Y.H. conceived the experiment. All authors have reviewed and considered the manuscript.

Compliance with ethical standards

Our study had been approved by the institutional review boards at the Sichuan University.

Competing interests

The authors declare that they have no competing interests.

Supplementary material

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Guanglin He
    • 1
  • Zheng Wang
    • 1
  • Yongdong Su
    • 2
  • Xing Zou
    • 3
  • Mengge Wang
    • 1
  • Jing Liu
    • 1
  • Yiping Hou
    • 1
  1. 1.Institute of Forensic Medicine, West China School of Basic Science and Forensic MedicineSichuan UniversityChengduChina
  2. 2.Forensic Identification Center, Public Security Bureau of Tibet Autonomous RegionLhasaChina
  3. 3.Department of Forensic Medicine, College of Basic MedicineChongqing Medical UniversityChongqingChina

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