Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis

  • Kim, Jeongyong (National Forensic Service, Forensic DNA Division) ;
  • Kim, Hyojeong (National Forensic Service, Forensic DNA Division) ;
  • Lee, Ja Hyun (National Forensic Service, Forensic DNA Division) ;
  • Kim, Hyo Sook (National Forensic Service, Forensic DNA Division) ;
  • Kim, Eungsoo (National Forensic Service Seoul Institute, DNA Analysis Division)
  • Received : 2021.04.09
  • Accepted : 2021.06.25
  • Published : 2021.06.30
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Abstract

Short Tandem Repeats (STR) analysis which characterized by genetic polymorphism has been widely used in the forensic genetic fields. Unfortunately, mutation occurred in various STR loci could make it difficult to interpret STR data. Thus, the mutation rate of STR loci plays an important role for the data interpretation in human identification and paternity test. To verify the mutation of the STR loci in the Korean population, 545 trio sets (father, mother, and child) were analyzed with two commercial STR kits that include the 23 autosomal STR loci (D1S1656, TPOX, D2S441, D2S1338, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, D10S1248, TH01, D12S391, VWA D13S317, D16S539, D18S51, D19S433, D21S11, D22S1045, SE33, Penta E and Penta D). As a result, 36 mutations were observed in 14 STR loci. The types of mutation were also classified by the increase or decrease of the alleles. The overall mutation rate was 1.4×10-3, and the paternal mutation rate was four times higher than that of the maternal. This study will provide more detailed criterion for human identification by the mutation rate of STR loci in the Korean population.

Keywords

Acknowledgement

This work was supported by National Forensic Service (NFS2021DNA03), Ministry of the Interior and Safety, Republic of Korea.

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