Korean J Leg Med.  2017 May;41(2):23-31. 10.7580/kjlm.2017.41.2.23.

Forensic DNA Phenotyping: A Review in Korean Perspective

• Seo HJ
• Cho S
• Lee JH
• Lyoo SH
• Kim MY
• Lee SD

• KMID: 2379669
• DOI: http://doi.org/10.7580/kjlm.2017.41.2.23

Abstract

Forensic DNA phenotyping (FDP) using human externally visible characteristics (EVCs) is an emerging new technique that allows for the prediction of phenotypic traits of a person of interest using relevant sets of genetic markers. This technique predicts not only physical appearances, but also the behavioral characteristics as well as biogeographical information, serving as a powerful supplementary tool to narrow down the investigative pool in various forensic cases. Over the past few years, many countries, Europe and America being at the forefront, have conducted significant research to identify related markers for predicting pigmentation traits such as eye, hair, and skin color. Furthermore, some commercial platforms are now available for practical use in forensic cases. Korea and other Asian countries have also dedicated remarkable research to identify relevant markers to utilize FDP in forensic investigations. However, a slightly different approach is needed because Asians have limited phenotypic variations than Western populations. Thus, medically irrelevant and simple propensity traits such as smoking and alcohol consumption could be used to compensate for the limited phenotypic variations. This article is intended to inform readers about the progress and worldwide trends in EVC research, as well as the whereabouts and future prospects of FDP-related research in Korea. Although various legal and ethical disputes must be resolved beforehand, employing an FDP system can certainly be a powerful complementary tool for providing additional clues in forensic investigations.

Keyword

Forensic DNA phenotyping; Single nucleotide polymorphism; Investigative technique; Phenotype; Pigmentation; Identification

MeSH Terms

Alcohol Drinking
Americas
Asian Continental Ancestry Group
Dissent and Disputes
DNA*
Europe
Genetic Markers
Hair
Humans
Investigative Techniques
Korea
Phenotype
Pigmentation
Polymorphism, Single Nucleotide
Skin Pigmentation
Smoke
Smoking
DNA
Genetic Markers
Smoke

Reference

1.Kayser M., Schneider PM. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet. 2009. 3:154–61.

2.Kayser M. Forensic DNA phenotyping: predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet. 2015. 18:33–48.

3.Kayser M., de Knijff P. Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet. 2011. 12:179–92.

4.Koops BJ., Schellekens M. Forensic DNA phenotyping: regulatory issues. Columbia Sci Technol Law Rev. 2008. 9:158–60.

5.Keating B., Bansal AT., Walsh S, et al. First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med. 2013. 127:559–72.

6.Ossorio PN. About face: forensic genetic testing for race and visible traits. J Law Med Ethics. 2006. 34:277–92.

7.Grimes EA., Noake PJ., Dixon L, et al. Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. Forensic Sci Int. 2001. 122:124–9.

8.Sulem P., Gudbjartsson DF., Stacey SN, et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet. 2007. 39:1443–52.

9.Mengel-From J., Borsting C., Sanchez JJ, et al. Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet. 2010. 4:323–8.

10.Dembinski GM., Picard CJ. Evaluation of the IrisPlex DNA-based eye color prediction assay in a United States population. Forensic Sci Int Genet. 2014. 9:111–7.

11.Tully G. Genotype versus phenotype: human pigmentation. Forensic Sci Int Genet. 2007. 1:105–10.

12.Yun L., Gu Y., Rajeevan H, et al. Application of six IrisPlex SNPs and comparison of two eye color prediction systems in diverse Eurasia populations. Int J Legal Med. 2014. 128:447–53.

13.Simons DH. Getting DNA to bear witness: genetic tests can reveal ancestry, giving police a new source of clues. US News World Rep. 2003. 134:50.

14.Frudakis T., Terravainen T., Thomas M. Multilocus OCA2 genotypes specify human iris colors. Hum Genet. 2007. 122:311–26.

15.Valenzuela RK., Henderson MS., Walsh MH, et al. Predicting phenotype from genotype: normal pigmentation. J Forensic Sci. 2010. 55:315–22.

16.Walsh S., Wollstein A., Liu F, et al. DNA-based eye colour prediction across Europe with the IrisPlex system. Forensic Sci Int Genet. 2012. 6:330–40.

17.Walsh S., Liu F., Wollstein A, et al. The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Sci Int Genet. 2013. 7:98–115.

18.Walsh S., Chaitanya L., Clarisse L, et al. Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage. Forensic Sci Int Genet. 2014. 9:150–61.

19.Matheson S. DNA phenotyping: snapshot of a criminal. Cell. 2016. 166:1061–4.

20.Stokowski RP., Pant PV., Dadd T, et al. A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet. 2007. 81:1119–32.

21.Maronas O., Phillips C., Sochtig J, et al. Development of a forensic skin colour predictive test. Forensic Sci Int Genet. 2014. 13:34–44.

22.Shriver MD., Parra EJ., Dios S, et al. Skin pigmentation, biogeographical ancestry and admixture mapping. Hum Genet. 2003. 112:387–99.

23.Claes P., Hill H., Shriver MD. Toward DNA-based facial composites: preliminary results and validation. Forensic Sci Int Genet. 2014. 13:208–16.

24.Spichenok O., Budimlija ZM., Mitchell AA, et al. Prediction of eye and skin color in diverse populations using seven SNPs. Forensic Sci Int Genet. 2011. 5:472–8.

25.Pneuman A., Budimlija ZM., Caragine T, et al. Verification of eye and skin color predictors in various populations. Leg Med (Tokyo). 2012. 14:78–83.

26.Pollack A. Building a face, and a case, on DNA. The New York Times. 2015 Feb 24: Sect. D1.

27.Ruiz Y., Phillips C., Gomez-Tato A, et al. Further development of forensic eye color predictive tests. Forensic Sci Int Genet. 2013. 7:28–40.

28.Fujimoto A., Kimura R., Ohashi J, et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet. 2008. 17:835–43.

29.Fujimoto A., Nishida N., Kimura R, et al. FGFR2 is associated with hair thickness in Asian populations. J Hum Genet. 2009. 54:461–5.

30.Lim JE., Oh B. Allelic frequencies of 20 visible phenotype variants in the korean population. Genomics Inform. 2013. 11:93–6.

31.Cho MK., Sankar P. Forensic genetics and ethical, legal and social implications beyond the clinic. Nat Genet. 2004. 36(11 Suppl):S8–12.

32.Kim JJ., Lee HI., Park T, et al. Identification of 15 loci influencing height in a Korean population. J Hum Genet. 2010. 55:27–31.

33.Cho YS., Go MJ., Kim YJ, et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet. 2009. 41:527–34.

34.Goldstein DB. Common genetic variation and human traits. N Engl J Med. 2009. 360:1696–8.

35.Weedon MN., Lango H., Lindgren CM, et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet. 2008. 40:575–83.

36.Lee JH., Lee HY., Jung KW, et al. Genetic testing for additional evidence during investigations: focus in ethics. Korean J Leg Med. 2015. 39:93–8.

37.Zieger M., Utz S. About DNA databasing and investigative genetic analysis of externally visible characteristics: a public survey. Forensic Sci Int Genet. 2015. 17:163–72.

38.MacLean CE., Lamparello A. Forensic DNA phenotyping in criminal investigations and criminal courts: assessing and mitigating the dilemmas inherent in the science. Recent Adv DNA Gene Seq. 2014. 8:104–12.