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International Journal of Legal Medicine

, Volume 132, Issue 4, pp 1043–1048 | Cite as

Inconsistent genotyping call at DYS389 locus and implications for interpretation

  • Zhiyong Liu
  • Dongtao Jia
  • Jingjing Zhang
  • Chen Li
  • Xi Zhang
  • Yaran Yang
  • Meng Yang
  • Man Chen
  • Zailiang Yu
  • Yan Wang
  • Jiangwei Yan
Original Article

Abstract

The male-specific Y chromosome short tandem repeat (STR) locus is used widely in forensic case, which are useful molecular tool to providing the biological evidence for male/female mixture and paternal lineage cases. The Y-STR analysis has been greatly facilitated by advent of commercial multiplex kit. However, even with well-designed robust multiplex kit, abnormal genotyping profile may be observed when encountering with mutations, such as deletion/duplication within the target region or mutation at the primer binding site. In this study, a single-allele shift by five nucleotides for the DYS389I marker between the AmpFlSTR® Yfiler® and Yfiler® Plus PCR amplification kits while the same allele count for DYS389II was observed in eight unrelated Chinese male individuals. After further investigations by re-amplified with three additional multiplex kits, sanger, and next-generation sequencing, the discordance was finally proven caused by existing rare mutation in those sample, which contained two adjacent SNPs only one base apart in the sequence. This paper describes the molecular basis of the discordance at DYS389I genotyping between different commercial multiplex kits and could provide available information for enhancing of interpretation of abnormal Y-STR genotyping in forensic practice.

Keywords

Y-STR DYS389 Mutation Genotyping Sequencing 

Notes

Funding information

This project was supported by the National Natural Science Foundation of China (No. 81330073).

Compliance with ethical standards

Informed consent was obtained from all participants prior to participation in this study. All experiments of this study were carried out in accordance with the guidelines and regulations of the Ethical Committee of Beijing Institute of Genomics, Chinese Academy of Sciences (approved number: 2017033).

Conflict of interest

The authors declare that they have no competing interests.

Supplementary material

414_2017_1735_MOESM1_ESM.xlsx (10 kb)
ESM 1 (XLSX 9 kb).

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • Zhiyong Liu
    • 1
    • 2
  • Dongtao Jia
    • 3
  • Jingjing Zhang
    • 4
  • Chen Li
    • 5
  • Xi Zhang
    • 4
  • Yaran Yang
    • 1
  • Meng Yang
    • 1
  • Man Chen
    • 1
    • 2
  • Zailiang Yu
    • 5
  • Yan Wang
    • 4
  • Jiangwei Yan
    • 1
    • 2
    • 6
  1. 1.CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of GenomicsChinese Academy of SciencesBeijingPeople’s Republic of China
  2. 2.University of Chinese Academy of SciencesBeijingPeople’s Republic of China
  3. 3.Nantong Bureau of Public SafetyNantongPeople’s Republic of China
  4. 4.Beijing 3i Forensics Technology Co., LtdBeijingPeople’s Republic of China
  5. 5.Beijing Microread Genetics Co., LtdBeijingPeople’s Republic of China
  6. 6.Shanxi Medical UniversityTaiyuanPeople’s Republic of China

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