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Lee, Lee, Lee, Park, Jeong, and Lee: Statistical Evaluation of Lineage Markers in Individual Identification
종 설

Korean J Leg Med 2014;38(2):39-47.

Published online: 17 January 2014

DOI: https://doi.org/10.7580/kjlm.2014.38.2.39

Statistical Evaluation of Lineage Markers in Individual Identification

Hyo Jung Lee1, Soong Deok Lee2, Seung Hwan Lee3, Su Jeong Park3, Su Jin Jeong4, Jae Won Lee4

1Clinical Development Department, Dong-A ST, Seoul, Korea

2Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea

3Supreme Prosecutor’ s Office, Seoul, Korea

4Department of Statistics, Korea University, Seoul, Korea

본 연구는 2012년도 DNA 감식의 국산화 및 선진화 연구사업 (1333-304-260) 의 지원을 받아 수행되었습니다. 책임저자 : 이재원 (136-701) 서울특별시 성북구 안암로 145, 고려대학교 통계학과 전화 : +82-2-3290-2237 FAX : +82-2-924-9895 E-mail : jael@korea.ac.kr

Received 1 May 2014       Revised 13 May 2014       Accepted 13 May 2014

Copyright © 2014 The Korean Society for Legal Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Mitochondrial DNA (mt DNA) and the non-recombining region of the Y chromosome are passed down, unaltered, from generation to generation, matrilineally and patrilineally, respectively. Therefore, the Y-chromosome DNA and mtDNA are known as lineage markers, and they play important roles in studies based on human migration and evolutionary history. Y-chromosome DNA is used in forensic analysis to identify individuals involved in cases of sexual assault. In this paper, we review the methods of statistical evaluation of lineage markers used in forensic identification. We also review the combined approach of autosomal and lineage marker evidence.

Keywords: Key Words, Lineage marker, Mitochondrial DNA, Y chromosome, Individual identification, Match probability

REFERENCES

1. Jeffreys AJ, Wilson V, Thein SL. Individual-specific ‘fingerprints’ of human DNA. Nature. 1985; 316:76–9.
crossref
2. Di Rienzo A, Peterson AC, Garza JC, et al. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci USA. 1994; 91:3166–70.
crossref
3. Brown WM, George M Jr, Wilson AC. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA. 1979; 76:1967–71.
crossref
4. Ward RH, Frazier BL, Dew-Jager K, et al. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci USA. 1991; 88:8720–4.
crossref
5. Clopper CJ, Pearson ES. The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika. 1934; 26:404–13.
crossref
6. Butler JM. Fundamentals of Forensic DNA Typing. Elsevier Inc. 2010. 253–396.
7. Buckleton JS, Krawczak M, Weir BS. The interpretation of lineage markers in forensic DNA testing. Forensic Sci Int Genet. 2011; 5:78–83.
crossref
8. Sinha SK, Budowle B, Chakraborty R, et al. Utility of the Y-STR typing systems Y-PLEXTM 6 and Y-PLEXTM 5 in forensic casework and Y-STR haplotype database for three major population groups in the United States. J Forensic Sci. 2004; 49:691–700.
9. Walsh B, Redd AJ, Hammer MF. Joint match probabilities for Y chromosomal and autosomal markers. Forensic Sci Int. 2008; 174:234–8.
crossref
10. Amorim A. A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic Sci Int Genet. 2008; 2:376–8.
crossref
11. Budowle B, Chakraborty R, Carmody G, et al. Source Attribution of a Forensic DNA Profile. Forensic Science Communications. 2000; 2:Available at. http://www.fbi.gov/about-us/lab/forensic-science-communications/fsc/jan2001/july2000/source.htm.
12. Weir BS, Cockerham CC. Estimating F-statistics for the analysis of population structure. Evolution. 1984; 38:1358–70.
crossref
13. Ewens WJ. The sampling theory of selectively neutral alleles. Theor Popul Biol. 1972; 3:87–112.
crossref
14. National Research Council Committee on DNA Forensic Science. The evaluation of forensic DNA evidence. Washington, DC: National Academy Press;1996.
15. Cavalli-Sforza LL, Menozzi P, Piazza A. The History and Geography of Human Genes. Princeton University Press. 1994. 302–42.
crossref
16. Balding DJ, Nichols RA. Significant genetic correlation among Caucasians at forensic DNA loci. Heredity. 1997; 78:583–9.
17. Foreman LA, Smith AFM, Evett IW. Bayesian analysis of deoxyribonucleic acid profiling data in forensic identification applications. J R Statist Soc. 1997; 160:429–69.

Table 1.
Example for 17-locus Yfiler Profile and Calculation of Y-STR Haplotype Frequency Estimates
17-locus Yfiler Profile
DYS456 DYS389I DYS390 DYS389II DYS458 DYS19 DYS385a/b DYS393 DYS391
17 13 24 29 18 14 11, 15 13 7
DYS439 DYS635 DYS392 GATA-H4 DYS437 DYS438 DYS448    
13 23 13 12 15 12 19    
YHRD N x p ＾(%) UCL† (%) ~1 in Every US Y-STR N x p ＾ % UCL† % ~1 in Every
17-locus 10243 0 0 0.029 3420 17-locus 4163 0 0 0.072 1390
12-locus 13751 3 0.022 0.047 2150 12-locus 10865 7 0.064 0.112 892
11-locus 36174 18 0.050 0.073 1375 11-locus 13906 19 0.137 0.198 505
9-locus 63369 307 0.484 0.539 186 9-locus 13906 128 0.920 1.079 93
7-locus 65165 2099 3.221 3.357 30 7-locus 13906 846 6.084 6.481 15

∗ 17-locus Yfiler, 12-locus Powerplex Y, 11-locus SWGDAM recommended, 9-locus european minimal haplotype, and 7-locus minimal haplotype minus DYS385a/b

† Upper bound confidence interval

Table 2.
Match Probability Threshold for Source Attribution at Various Population Size and Confidence Levels
  Sample Size (n) Confidence levels
90% 95% 99% 99.9%
  10 1.05×10-2 5.12×10-3 1.00×10-3 1.00×10-4
  50 2.10×10-3 1.03×10-3 2.01×10-4 2.00×10-5
  100 1.05×10-3 5.13×10-4 1.00×10-4 1.00×10-5
  1,000 1.05×10-4 5.13×10-5 1.01×10-5 1.00×10-6
  100,000 1.05×10-6 5.13×10-7 1.01×10-7 1.00×10-8
  1,000,000 1.05×10-7 5.13×10-8 1.01×10-8 1.00×10-9
  10,000,000 1.05×10-8 5.13×10-9 1.01×10-9 1.00×10-10
Korea (2011) 50,000,000 2.11×10-9 1.03×10-9 2.01×10-10 2.00×10-11
U.S. (1999) 260,000,000 4.05×10-10 1.97×10-10 3.87×10-11 3.85×10-12
U.S. (2005) 300,000,000 3.51×10-10 1.71×10-10 3.35×10-11 3.33×10-12
  1,000,000,000 1.05×10-10 5.13×10-11 1.01×10-11 1.00×10-12
World pop. 6,000,000,000 1.76×10-11 8.55×10-12 1.68×10-12 1.67×10-13
Table 3.
Example for 17-locus Yfiler Profile
DYS456 DYS389I DYS390 DYS389II DYS458 DYS19 DYS385a/b DYS393 DYS391
15 14 23 29 17 16 10, 18 13 10
DYS439 DYS635 DYS392 GATA-H4 DYS437 DYS438 DYS448    
12 21 13 11 14 13 18    
Table 4.
Example for Combined Approach of Autosomal and Lineage Marker Evidence
Locus Crime sample Suspect Not excluded Likelihood ratio
[a]∗ [b]† [c]†
D8S1179 14-15 14-15 O 18.48 15.19 14.33
D21S11 30-31 30-31 O 13.74 11.26 10.65
D7S820 11-11 11-11 O 08.40 06.51 06.05
D3S1358 15-17 15-17 O 06.51 06.05 05.92
D5S818 10-11 10-11 O 07.74 07.11 06.92
FGA 22-23 22-23 O 12.20 10.63 10.20
  Cumulative Identity Index   1.3111 × 106 508994 385970
  Cumulative Match Probability   7.6269 × 10-7 1.9647 × 10-6 2.5909 × 10-6
  15,14,23,28, 15,14,23,28,        
Yfiler 18,16,10-20, 18,16,10-20,        
STR 12,10,14,20, 12,10,14,20, O   MP = 1/2000  
haplotype 14,12,14,12, 14,12,14,12,        
  19 19        

∗ Suspect and offender are not related.

† Suspect and offender are the members of the same subpopulation (θ = 0.03).

† Suspect and offender are the members of the same subpopulation and suspect and offender have same Y-STR profile (θ = 0.04).

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