대한의생명과학회지 (Biomedical Science Letters)

  • 제27권2호
  • /
  • Pages.105-110
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  • 2021
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  • 1738-3226(pISSN)
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  • 2288-7415(eISSN)
대한의생명과학회 (The Korean Society for Biomedical Laboratory Sciences)
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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)
  • 투고 : 2021.04.09
  • 심사 : 2021.06.25
  • 발행 : 2021.06.30
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초록

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.

키워드

과제정보

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

참고문헌

  1. Asicioglu F, Oguz-Savran F, Ozbek U. Mutation rate at commonly used forensic STR loci: Paternity testing experience. Dis Markers. 2004. 20: 313-315. https://doi.org/10.1155/2004/643086
  2. Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B. Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat. Am J Hum Genet. 1998. 62: 1408-1415. https://doi.org/10.1086/301869
  3. Budowle B, Shea B, Niezgoda S, Chakraborty R. CODIS STR Loci Data from 41 sample Populations*. J Forensic Sci. 2001. 46: 453-489.
  4. Butler JM. Short tandem repeat typing technologies used in human identity testing. Biotechniques. 2007.
  5. Butler JM. Advanced Topics in Forensic DNA Typing: Methodology, Advanced Topics in Forensic DNA Typing: Methodology. 2012.
  6. Butler JM, (Becky) Hill CR, Kline MC, et al. SE33 variant alleles: Sequences and implications. Forensic Sci Int Genet Suppl Ser. 2011. 3.
  7. Butler JM, Hill CR. Biology and genetics of new autosomal STR loci useful for forensic DNA analysis. Forensic DNA Anal. Curr Pract Emerg Technol. 2013. 181-198.
  8. Cotton EA, Allsop RF, Guest JL, et al. Validation of the AMPFlSTR® SGM Plus (TM) system for use in forensic casework. Forensic Sci Int. 2000. 112: 151-161. https://doi.org/10.1016/S0379-0738(00)00182-1
  9. Delamoye M, Duverneuil C, Riva K, et al. False homozygosities at various loci revealed by discrepancies between commercial kits: Implications for genetic databases. Forensic Sci Int. 2004. 143: 47-52. https://doi.org/10.1016/j.forsciint.2004.02.001
  10. Han GR, Lee YW, Lee HL, et al. A Korean population study of the nine STR loci FGA, VWA, D3S1358, D18551, D21S11, D8S1179, D7S820, D13S317 and D5S818. Int J Legal Med. 2000. 114: 41-44. https://doi.org/10.1007/s004140000137
  11. Jin B, Su Q, Luo H, et al. Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing. Forensic Sci Int Genet. 2016. 23: 86-90. https://doi.org/10.1016/j.fsigen.2016.03.009
  12. Kim MY, Cho S, Lyoo SH, et al. Looking Back at Our 5-Year Experience of Paternity Testing: A Summary. Korean J Leg Med. 2016. 40: 48-54. https://doi.org/10.7580/kjlm.2016.40.2.48
  13. Lane AB. STR null alleles complicate parentage testing in South Africa. South African Med J. 2013. 103: 1004-1008. https://doi.org/10.7196/SAMJ.7067
  14. Liu QL, Chen YF, Huang XL, Liu KY, Zhao H, Lu DJ. Population data and mutation rates of 19 STR loci in seven provinces from China based on Goldeneye DNA ID System 20A. Int J Legal Med 2017. 131: 653-656. https://doi.org/10.1007/s00414-016-1441-1
  15. Lopez Gonzalez PN, Bautista-Gonzalez JE, Lopez-Gonzalez MJ, Sosa-Escalante JE, Gonzalez-Herrera L. The most frequent autosomal STRs involved in exclusion of paternity cases in a population from southeast, Mexico. Forensic Sci Int Genet Suppl Ser. 2019. 7: 465-467. https://doi.org/10.1016/j.fsigss.2019.10.053
  16. Mardini AC, Rodenbusch R, Schumacher S, et al. Mutation rate estimates for 13 STR loci in a large population from Rio Grande do Sul, Southern Brazil. Int J Legal Med. 2013. 127: 45-47. https://doi.org/10.1007/s00414-011-0642-x
  17. Mizuno N, Kitayama T, Fujii K, et al. A D19S433 primer binding site mutation and the frequency in Japanese of the silent allele it causes. J Forensic Sci. 2008. 53: 1068-1073. https://doi.org/10.1111/j.1556-4029.2008.00806.x
  18. Mustafayev NS, Mammadov ER, Mammadov AC. Mutation cases in the paternity tests using 15 autosomal STR markers. J Life Sci Biomed. 2019. 1: 5-17.
  19. Oh YN, Lee HY, Lee EY, et al. Haplotype and mutation analysis for newly suggested Y-STRs in Korean father-son pairs. Forensic Sci Int Genet. 2015. 15: 64-68. https://doi.org/10.1016/j.fsigen.2014.09.023
  20. Ricci U, Melean G, Robino C, Genuardi M. A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case. J Forensic Sci. 2007. 5: 393-396.
  21. Yang IS, Lee HY, Park SJ, Yang W-I, Park MJ. Analysis of Kinship Index Distributions in Koreans Using Simulated Autosomal STR Profiles. Korean J Leg Med. 2013. 57-65. https://doi.org/10.7580/kjlm.2013.37.2.57