대한의생명과학회지 (Biomedical Science Letters)

  • 제28권4호
  • /
  • Pages.327-333
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  • 2022
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  • 1738-3226(pISSN)
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  • 2288-7415(eISSN)
대한의생명과학회 (The Korean Society for Biomedical Laboratory Sciences)
권호 표지
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A Case of Single-step Mutations at Two Short Tandem Repeat loci (D13S317 and DXS10148) among Three Generations of a Korean Family

  • Byeong Ju, Youn (Forensic DNA Division, National Forensic Service) ;
  • Kyungmyung, Lee (Forensic DNA Division, National Forensic Service) ;
  • Cho Hee, Kim (Forensic DNA Division, National Forensic Service)
  • 투고 : 2022.10.06
  • 심사 : 2022.12.12
  • 발행 : 2022.12.31
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초록

The DNA profiling of short tandem repeat (STR) markers is a powerful tool for forensic identification and forensic paternity testing. However, STR loci are susceptible to mutation that cause mismatches between parents and children when paternity is tested. Herein, we examined paternity disputes with 23 autosomal STR loci using two commercial human identification kits and revealed successive mismatches at the D13S317 locus across three generations of a Korean family. Additionally, we investigated 12 X-chromosomal STRs and discovered an inconsistency at the DXS10148 locus between the father and daughter of the same Korean family. Furthermore, we confirmed STR genotypes at the D13S317 and DXS10148 loci of the family using sequencing analysis. Consequently, we identified a successive single-step mutation at the D13S317 locus and one single-step mutation at the DXS10148 locus in three generations of the Korean family. Therefore, this case study may be useful for interpreting and understanding forensic paternity tests.

키워드

과제정보

This work was supported by the National Forensic Service (NFS2022DNA02), Ministry of the Interior and Safety, Republic of Korea.

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