Mutation analysis of 13 RM Y-STR loci in Han population from Beijing of China

  • Li Yuan
  • Wen Chen
  • Dong Zhao
  • Yunli Li
  • Shicheng Hao
  • Yan Liu
  • Di Lu
Short Communication


Two five-color fluorescence multiplex amplification systems of 13 Y chromosome short tandem repeat (Y-STR) loci (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) have been designed. A study was conducted measuring the mutation rates of the 13 Y-STRs in 501 father-son pairs of Han origin in Beijing, China. Among 7515 allele transmissions in 501 father-son pairs, 75 single-step and 2 two-step mutations were observed. Two father-son pairs had mutations at two different loci in 13 Y-STRs. The estimated mutation rates ranged from 2.00 × 10−3 (95% CI 1.00 × 10−4 to 1.11 × 10−2) for the DYF387S1, DYF403S1b, DYS526a, and DYS449 loci to 4.59 × 10−2 (95% CI 2.93 × 10−2 to 6.81 × 10−2) for the DYF399S1 locus. The average mutation rate is 1.02 × 10−2 (95% CI 8.10 × 10−3 to 1.28 × 10−2). Among these Y-STR markers, only DYF399S1, DYS627, DYF403S1a, DYS547, DYS612, and DYS626 had mutation rates higher than 1.00 × 10−2.


Y chromosome STR Mutation rate Han population 



We are very grateful to Christophe Champod, Eldridge Heidi, and Chengtao Jiang for their valuable technical assistance.

Funding information

This work was supported by opening research grants from Shanghai Key Laboratory of Forensic Medicine (Academy of Forensic Science, Ministry of Justice, PR. China) (No. KF1608) and China Scholarship Council.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

414_2018_1949_MOESM1_ESM.docx (881 kb)
ESM 1 (DOCX 881 kb)


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Copyright information

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

Authors and Affiliations

  • Li Yuan
    • 1
    • 2
  • Wen Chen
    • 2
  • Dong Zhao
    • 2
  • Yunli Li
    • 2
  • Shicheng Hao
    • 2
  • Yan Liu
    • 2
  • Di Lu
    • 2
  1. 1.Shanghai Key Laboratory of Forensic MedicineAcademy of Forensic Science, Ministry of Justice, PR, ChinaShanghaiPeople’s Republic of China
  2. 2.Key Laboratory of Evidence Science, Ministry of Education and Collaborative Innovation Center of Judicial CivilizationChina University of Political Science and LawBeijingPeople’s Republic of China

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