대한의생명과학회지 (Biomedical Science Letters)

  • 제28권3호
  • /
  • Pages.157-169
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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 Review of Extended STR Loci and DNA Database

  • Cho, Yoonjung (Forensic DNA Division, National Forensic Service) ;
  • Lee, Min Ho (Forensic DNA Division, National Forensic Service) ;
  • Kim, Su Jin (Forensic DNA Division, National Forensic Service) ;
  • Park, Ji Hwan (Forensic DNA Division, National Forensic Service) ;
  • Jung, Ju Yeon (Forensic DNA Division, National Forensic Service)
  • 투고 : 2022.09.06
  • 심사 : 2022.09.29
  • 발행 : 2022.09.30
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초록

DNA typing is the typical technology in the forensic science and plays a significant role in the personal identification of victims and suspects. Short tandem repeat (STR) is the short tandemly repeated DNA sequence consisting of 2~7 bp DNA units in specific loci. It is disseminated across the human genome and represents polymorphism among individuals. Because polymorphism is a key feature of the application of DNA typing STR analysis, STR analysis becomes the standard technology in forensics. Therefore, the DNA database (DNA-DB) was first introduced with 4 essential STR markers for the application of forensic science; however, the number of STR markers was expanded from 4 to 13 and 13 to 20 later to counteract the continuously increased DNA profile and other needed situations. After applying expanded STR markers to the South Korean DNA-DB system, it positively affected to low copy number analysis that had a high possibility of partial DNA profiles, and especially contributed to the theft cases due to the high portion of touch DNA evidence in the theft case. Furthermore, STR marker expansion not only contributed to the resolution of cold cases but also increased kinship index indicating the potential for improved kinship test accuracy using extended STR markers. Collectively, the expansion of the STR locus was considered to be necessary to keep pace with the continuously increasing DNA profile, and to improve the data integrity of the DNA-DB.

키워드

과제정보

This work was supported by the Korean government and by a grant (NFS2022DNA03) from the Forensic Research Program of the National Forensic Service (NFS).

참고문헌

  1. Bernotaite A. Building of the world's largest DNA database: The china case. Forensic DNA Typing: Principles, Applications and Advancements. 2020. 639-658.
  2. Butler JM. Genetics and genomics of core short tandem repeat loci used in human identity testing. J Forensic Sci. 2006. 51: 253-265. https://doi.org/10.1111/j.1556-4029.2006.00046.x
  3. Butler JM. Short tandem repeat typing technologies used in human identity testing. Biotechniques. 2007. 43: ii-v. https://doi.org/10.2144/000112582
  4. Butler JM. Chapter 14 - forensic challenges: Degraded DNA, mixtures, and lcn, in fundamentals of forensic DNA typing. 2010. 315-339. Academic Press. San Diego.
  5. Butler JM. Chapter 8 - DNA databases: Uses and issues, in advanced topics in forensic DNA typing: Methodology. 2012. 213-270. Academic Press. San Diego.
  6. Butler JM. The future of forensic DNA analysis. Philos Trans R Soc Lond B Biol Sci. 2015. 370.
  7. Butler JM, Hill CR. Biology and genetics of new autosomal str loci useful for forensic DNA analysis. 2012. CRC Press. Florida.
  8. Cho SY. Critical Review on Law about 'The Use and Protection of DNA Identification Information'. Korean Criminological Review. 2010. 21: 223-258.
  9. Coble MD. Capillary electrophoresis of ministr markers to genotype highly degraded DNA samples. Methods Mol Biol. 2012. 830: 31-42. https://doi.org/10.1007/978-1-61779-461-2_3
  10. Dang Z, Liu Q, Zhang G, Li S, Wang D, Pang Q, Yang D, Li C, Cui W, Wang Y. Population genetic data from 23 autosomal str loci of huaxia platinum system in the jining han population. Mol Genet Genomic Med. 2020. 8: e1142.
  11. Fan H, Chu JY. A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics. 2007. 5: 7-14. https://doi.org/10.1016/S1672-0229(07)60009-6
  12. FBI. CODIS-NDIS statistics. 2021. https://le.fbi.gov/science-and-lab-resources/biometrics-and-fingerprints/codis/codis-ndis-statistics.
  13. Ge J, Eisenberg A, Budowle B. Developing criteria and data to determine best options for expanding the core codis loci. Investig Genet. 2012. 3: 1. https://doi.org/10.1186/2041-2223-3-1
  14. Gill P, Fereday L, Morling N, Schneider PM. The evolution of DNA databases--recommendations for new european str loci. Forensic Sci Int. 2006. 156: 242-244. https://doi.org/10.1016/j.forsciint.2005.05.036
  15. Gill P, Haned H, Bleka O, Hansson O, Dorum G, Egeland T. Genotyping and interpretation of str-DNA: Low-template, mixtures and database matches-twenty years of research and development. Forensic Sci Int Genet. 2015. 18: 100-117. https://doi.org/10.1016/j.fsigen.2015.03.014
  16. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R. Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet. 1994. 55: 175-189.
  17. Han SN, Kim JY, Park JH, Ahn HJ. Statistical analysis on DNA profiling success rates of touched evidences. Korean Journal of Forensic Sciences. 2013. 7: 105-110.
  18. Hares DR. Selection and implementation of expanded codis core loci in the united states. Forensic Sci Int Genet. 2015. 17: 33-34. https://doi.org/10.1016/j.fsigen.2015.03.006
  19. Hwang JH, Han SY, Cho NS. Population genetic data and concordance study for the powerplex esi17 system and the ampf/str identifilertm kit in koreans. Korean Journal of Forensic Sciences. 2013. 7: 265-271.
  20. INTERPOL. Interpol global DNA profiling survey results 2019. 2019. https://www.interpol.int/content/download/15469/file/INTERPOL%15420Global%15420DNA%15420Profiling%15420Survey%15420Results%2019.pdf.
  21. Jang JH, Lee BT, Woo GM, Oh HH, Jung OH, Choi YK, Kim DH, Woo YM, Lee JK, Kim JM, Park SJ, Lee DS, Lee WH, Kim JY, Park JH, Lee JY. The 2021 annual report of DNA Identification Database. 2021.
  22. Jobling MA, Gill P. Encoded evidence: DNA in forensic analysis. Nat Rev Genet. 2004. 5: 739-751. https://doi.org/10.1038/nrg1455
  23. Jordan D, Mills DE. Past, present, and future of DNA typing for analyzing human and non-human forensic samples. Frontiers in Ecology and Evolution. 2021. 9: 646130. https://doi.org/10.3389/fevo.2021.646130
  24. Jung JY, Cho EH, Lee KM, Ahn ER, Hong SB, Lee DS, Lim SK. Settlement of larceny case by additional DNA typing of crime scene evidences. Journal of Scientific Criminal Investigation. 2017. 11: 137-142.
  25. Jung KW, Cho SH, Woo GM. A study on the usefulness of STR marker extension in DNA database operation and long-term development plan. New Trends in Forensic Science. 2021. 24-63.
  26. Jung JY, Ryo GH, Kim JY, Ahn ER, Moon SH, Kang PW, Choi DH. Matching arrestees to crime scene DNA profiles by expanding DNA identification database loci. The Journal of Police Science. 2020. 20: 171-183. https://doi.org/10.22816/POLSCI.2020.20.4.006
  27. Kim JY, Jung JY, Lee MJ, Jang MH, Moon SH, Lee WH, Lim HJ, Sung HY, Choi DH. Study for discordance occurrence ratio analysis according to the expansion of forensic DNA database and the change of str analysis kit. Korean Journal of Forensic Sciences. 2020. 23: 25-31.
  28. Kim JY, Kim HJ, Lee JH, Kim HS, Kim ES. Mutation cases in the korean population using 23 autosomal str loci analysis. Biomedical Science Letters. 2021. 27: 105-110. https://doi.org/10.15616/BSL.2021.27.2.105
  29. Kim S, Park HC, Kim JS, Nam Y, Kim HY, Park J, Chung UH, Lee JM, Lim SK, Park SJ. Allele frequency data of 20 str loci in 2000 korean individuals. Forensic Science International Genetics. 2017. 6: e65-e68. https://doi.org/10.1016/j.fsigss.2017.09.055
  30. Kim SG. Using DNA Information in DNA Databases for Crime Prevention: Current Issues and Future Directions. Korean Criminological Review. 2012. 23: 259-284.
  31. Li F, Xuan J, Xing J, Ding M, Wang B, Pang H. Identification of new primer binding site mutations at th01 and d13s317 loci and determination of their corresponding str alleles by allele-specific pcr. Forensic Science International: Genetics. 2014. 8: 143-146. https://doi.org/10.1016/j.fsigen.2013.08.013
  32. Mardini AC, Rodenbusch R, Schumacher S, Chula FG, Michelon CT, Gastaldo AZ, Maciel LP, de Matos Almeida SE, da Silva CM. 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
  33. Martin P, Oscar G, Cristina A, Pilar G, Alonso A. Application of mini-str loci to severely degraded casework samples. International Contress Series. 2006. 41: 522-525.
  34. Nai YH, Powell SM, Breadmore MC. Capillary electrophoretic system of ribonucleic acid molecules. J Chromatogr A. 2012. 1267: 2-9. https://doi.org/10.1016/j.chroma.2012.08.017
  35. Novroski NMM, Wendt FR, Woerner AE, Bus MM, Coble M, Budowle B. Expanding beyond the current core str loci: An exploration of 73 str markers with increased diversity for enhanced DNA mixture deconvolution. Forensic Sci Int Genet. 2019. 38: 121-129. https://doi.org/10.1016/j.fsigen.2018.10.013
  36. Nwawuba Stanley U, Mohammed Khadija A, Bukola AT, Omusi Precious I, Ayevbuomwan Davidson E. Forensic DNA profiling: Autosomal short tandem repeat as a prominent marker in crime investigation. Malays J Med Sci. 2020. 27: 22-35.
  37. Oldoni F, Podini D. Forensic molecular biomarkers for mixture analysis. Forensic Sci Int Genet. 2019. 41: 107-119. https://doi.org/10.1016/j.fsigen.2019.04.003
  38. Roewer L. DNA fingerprinting in forensics: Past, present, future. Investig Genet. 2013. 4: 22. https://doi.org/10.1186/2041-2223-4-22
  39. Samantha JO, Kathryn LL, Peter JT. Evaluation of the agcu express-marker 16 and 22 pcr amplification kits using biological samples applied to fta micro cards in reduced volume direct pcr amplification reactions. Journal of Forensic Science and Medicine. 2015. 1: 3-7. https://doi.org/10.4103/2349-5014.155546
  40. Slooten KJ, Egeland T. Exclusion probabilities and likelihood ratios with applications to kinship problems. Int J Legal Med. 2014. 128: 415-425. https://doi.org/10.1007/s00414-013-0938-0
  41. Wang M, Wang Z, He G, Jia Z, Liu J, Hou Y. Genetic characteristics and phylogenetic analysis of three chinese ethnic groups using the huaxia platinum system. Sci Rep. 2018. 8: 2429. https://doi.org/10.1038/s41598-018-20871-7
  42. Yang IS, Lee HY, Park SJ, Yang WI, Shin KJ. Analysis of kinship index distributions in koreans using simulated autosomal str profiles. Korean Journal of Legal Medicine. 2013. 37: 57-65. https://doi.org/10.7580/kjlm.2013.37.2.57
  43. Yoo SY, Cho NS, Park MJ, Seong KM, Hwang JH, Song SB, Han MS, Lee WT, Chung KW. A large population genetic study of 15 autosomal short tandem repeat loci for establishment of korean DNA profile database. Mol Cells. 2011. 32: 15-19. https://doi.org/10.1007/s10059-011-2288-4