DOI QR코드

DOI QR Code

Development and Applications of A Paternity and Kinship Analysis System Based on DNA Data

유전자 분석 자료에 의한 친자 및 혈연관계 분석시스템 개발 및 활용

  • Koo, Kyo-Chan (Department of Industrial Engineering, Dankook University) ;
  • Kim, Sun-Uk (Department of Industrial Engineering, Dankook University)
  • 구교찬 (단국대학교 산업공학과) ;
  • 김선욱 (단국대학교 산업공학과)
  • Received : 2015.07.02
  • Accepted : 2015.10.08
  • Published : 2015.10.31

Abstract

Recently, DNA data of missing person, killed person, and missing child continue to increase but most of statistical calculation for paternity confirmation is being done through manual methods or Excel. Therefore, we need development of a software which is able to facilitate both systematic management and effective analysis of Short Tandem Repeat (STR) derived from DNA data. Without extensive testing, through a twenty-month study was developed a web-based system which performs paternity analysis and kinship analysis easily based on the various options. The former uses an existing algorithm for paternity index and the latter does Identity by descent (IBD) formula. Due to our system validated over real datasets in terms of likelihood ratio and probability of paternity, it ensures increased reliability as well as effective management and analysis of DNA data in mass disaster. In addition, it includes advanced features such as an integrated environment, user-centered interface, process automation and so on.

최근 실종자, 변사자, 미아 등의 유전자 분석 자료는 지속적으로 증가하고 있으나, 현재 친자확인을 위한 통계학적 계산은 대부분 수기에 의하거나 엑셀을 통해서 이루어지고 있다. 따라서 유전자 분석 자료 중 상염색체 Short Tandem Repeat (STR)을 체계적으로 관리하고 효과적으로 분석할 수 있는 소프트웨어의 개발이 필요하다. 친자관계 및 혈연관계를 다양한 옵션 하에서 용이하게 분석하는 웹 기반 유전자자료 분석시스템이 광범위한 테스트 없이 약 20개월의 연구를 통해서 개발되었다. 친자관계 분석을 위해서 부계지수 계산 알고리즘을 사용하였고, 혈연관계 분석을 위해서 Identity by descent (IBD) 공식을 사용하였다. 이 시스템은 실제 데이터를 기반으로 혈연관계지수와 친자확률이 검증됨으로써 신뢰성이 확보됨은 물론, 대량 재난 재해 시 발생될 유전자 분석 자료의 관리 및 분석에 효과적으로 이용될 수 있을 것이다. 이 외에도 본 시스템은 데이터베이스와 알고리즘의 통합 환경, 사용자 중심 인터페이스, 프로세스 자동화 등 고급기능을 포함한다.

Keywords

References

  1. S. B. Hong, J. Y. Kim, H. J. Park, H. J. Ahn, "Database searching and kinship analysis system of STR and mtDNA data in Korean war remains", Korean journal of forensic science, Vol. 11, No. 1, pp. 12-18, 2010.
  2. J. Drabek, "Validation of software for calculating the likehood ratio for parentage and kinship", Forensic Science International: Genetics, Vol. 3, No. 2, pp. 112-118, 2008. DOI: http://dx.doi.org/10.1016/j.fsigen.2008.11.005
  3. J. A. Riancho, M. T. Zarrabeitia, "A Windows-based software for common paternity and sibling analyses", Forensic Science International, Vol. 135, No. 3, pp. 232-234, 2003. DOI: http://dx.doi.org/10.1016/S0379-0738(03)00217-2
  4. K. F. Goodnight, D. C. Queller, "Computer software for performing likehood test of pedigree relationship using genetic markers", Molecular Ecology, Vol. 8, No. 7, pp. 1231-1234, 1999. DOI: http://dx.doi.org/10.1046/j.1365-294x.1999.00664.x
  5. J. M. Butler, "Genetics and genomics of core short tandem repeat loci used in human identity testing", Journal of Forensic Sciences, Vol. 51, No. 2, pp. 253-265, 2006. DOI: http://dx.doi.org/10.1111/j.1556-4029.2006.00046.x
  6. J. M. Butler, "Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers", Academic Press, 2005.
  7. P. Gill, "Role of short tandem repeat DNA in forensic casework in the UK-past, present, and future perspectives", Biotechniques, Vol. 32, No. 2, pp. 366-385, 2002.
  8. M. A. Jobling, P. Gill, "Encoded evidence: DNA in forensic analysis", Nature Reviews Genetics, Vol. 5, No. 10, pp. 739-751, 2004. DOI: http://dx.doi.org/10.1038/nrg1455
  9. J. S. Buckleton, C. M. Triggs, S. J. Walsh, "Forensic DNA Evidence Interpretation", CRC Press, 2005.
  10. H. J. Lee, J. W. Lee, G. R. Han, J. J. Hwang, "Motherless case in paternity testing", Forensic science international, Vol. 114, No. 2, pp. 57-65, 2000. DOI: http://dx.doi.org/10.1016/S0379-0738(00)00293-0
  11. H. J. Jin, K. D. Kwak, S. B. Hong, Y. H. Cho, M. S. Han, W. Kim, "Forensic Genetic Analysis for the PowerPlex-16 System in the Korean Population", Gene & Genomics, Vol. 29, No. 4, pp. 489-496, 2007.
  12. M. S. Blouin, "DNA-based methods for pedigree reconstruction and kinship analysis in natural population", Trends in Ecology & Evolution, Vol. 18, No. 10, pp. 503-511, 2003. DOI: http://dx.doi.org/10.1016/S0169-5347(03)00225-8
  13. F. Dai, D. E. Weeks, "Ordered Genotypes: An extended ITO Method and a general formula for genetic covariance", The American Journal of Human Genetics, Vol. 78, No. 6, pp. 1035-1045, 2006. DOI: http://dx.doi.org/10.1086/504045
  14. T. Egeland, P. F. Mostad, B. Mevag, M. Stenersen, "Beyond traditional paternity and identification cases: Selecting the most probable pedigree", Forensic Science International, Vol. 110, No. 1, pp. 47-59, 2000. DOI: http://dx.doi.org/10.1016/S0379-0738(00)00147-X
  15. C. H. Brenner, "Multiple mutations, covert mutations and false exclusions in paternity casework", International Congress Series, Vol. 1261, pp. 112-114, 2004. DOI: http://dx.doi.org/10.1016/S0531-5131(03)01843-0