Journal List > Korean J Leg Med > v.38(2) > 1004736

Korean J Leg Med. 2014 May;38(2):39-47. Korean.
Published online May 28, 2014.
© Copyright 2014 by the Korean Society for Legal Medicine
Statistical Evaluation of Lineage Markers in Individual Identification
Hyo Jung Lee,1 Soong Deok Lee,2 Seung Hwan Lee,3 Su Jeong Park,3 Su Jin Jeong,4 and 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.

Corresponding author (Email: )
Received May 01, 2014; Revised May 13, 2014; Accepted May 13, 2014.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


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: Lineage marker; Mitochondrial DNA; Y chromosome; Individual identification; Match probability


Table 1
Example for 17-locus Yfiler Profile and Calculation of Y-STR Haplotype Frequency Estimates
Click for larger image

Table 2
Match Probability Threshold for Source Attribution at Various Population Size and Confidence Levels
Click for larger image

Table 3
Example for 17-locus Yfiler Profile
Click for larger image

Table 4
Example for Combined Approach of Autosomal and Lineage Marker Evidence
Click for larger image

1. Jeffreys AJ, Wilson V, Thein SL. Individual-specific 'fingerprints' of human DNA. Nature 1985;316:76–79.
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;91:3166–3170.
3. Brown WM, George M Jr, Wilson AC. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA 1979;76:1967–1971.
4. Ward RH, Frazier BL, Dew-Jager K, et al. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci USA 1991;88:8720–8724.
5. Clopper CJ, Pearson ES. The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 1934;26:404–413.
6. Butler JM. In: Fundamentals of Forensic DNA Typing. Elsevier Inc.; 2010. pp. 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.
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;174:234–238.
10. Amorim A. A cautionary note on the evaluation of genetic evidence from uniparentally transmitted markers. Forensic Sci Int Genet 2008;2:376–378.
11. Budowle B, Chakraborty R, Carmody G, et al. Source Attribution of a Forensic DNA Profile. Forensic Sci Commun 2000:2.
12. Weir BS, Cockerham CC. Estimating F-statistics for the analysis of population structure. Evolution 1984;38:1358–1370.
13. Ewens WJ. The sampling theory of selectively neutral alleles. Theor Popul Biol 1972;3:87–112.
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. In: The History and Geography of Human Genes. Princeton University Press; 1994. pp. 302-342.
16. Balding DJ, Nichols RA. Significant genetic correlation among Caucasians at forensic DNA loci. Heredity 1997;78:583–589.
17. Foreman LA, Smith AFM, Evett IW. Bayesian analysis of deoxyribonucleic acid profiling data in forensic identification applications. J R Statist Soc 1997;160:429–469.