Abstract
Identity is a set of individual characteristics. It is crucial to criminal justice system as it links the crime to the perpetrator and the victim. Since long there have been many developments in shaping out the systems of identification like bertillonage, serological methods of identification, etc. Later with the advent of DNA profiling technique using Short Tandem Repeat (STRs), the process of individualization became more robust. With the advancements in the field of genetics, a novel technique was introduced to Forensic DNA technology called DNA Phenotyping. It is the technique where the phenotypic traits are translated from the genotype of the individual and a “Snapshot” of a suspect is created. Although the technology is new, it is growing at a faster rate. The present chapter unfolds the science behind this novel technique. It talks about the DNA-based studies on the prediction of phenotypic characters, legislations, and the notable case studies.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
“48 Hours: NCIS:” To Catch a Killer (2020) Retrieved 26 July 2020, from https://www.cbsnews.com/news/48-hours-ncis-meghan-landowski-marilyn-allen-murders-to-catch-a-killer/
Allwood J, Harbison S (2013) SNP model development for the prediction of eye colour in New Zealand. Forensic Sci Int Genet 7(4):444–452. https://doi.org/10.1016/j.fsigen.2013.03.005
Augenstein S (2016) DNA phenotyping recreates the face of an alleged serial killer. Forensic Magazine. Retrieved from https://www.forensicmag.com/article/2016/08/dna-phenotyping-recreates-face-allegedserial-killer on 15 Jan 2017
Aulchenko Y, Struchalin M, Belonogova N, Axenovich T, Weedon M, Hofman A et al (2009) Predicting human height by Victorian and genomic methods. Eur J Hum Genet 17(8):1070–1075. https://doi.org/10.1038/ejhg.2009.5
Bartee L, Shriner W, Creech C (n.d.) Phenotypes and Genotypes. Retrieved 17 July 2020, from https://openoregon.pressbooks.pub/mhccmajorsbio/chapter/phenotypes-and-genotypes/
Bocklandt S, Lin W, Sehl M, Sánchez F, Sinsheimer J, Horvath S, Vilain E (2011) Epigenetic predictor of age. PLoS One 6(6):e14821. https://doi.org/10.1371/journal.pone.0014821
Branicki W, Brudnik U, Kupiec T, Wolañska-Nowak P, Wojas-Pelc A (2007) Determination of phenotype associated SNPs in the MC1R gene. J Forensic Sci 52(2):349–354. https://doi.org/10.1111/j.1556-4029.2006.00361.x
Branicki W, Liu F, van Duijn K, Draus-Barini J, Pośpiech E, Walsh S et al (2011) Model-based prediction of human hair color using DNA variants. Hum Genet 129(4):443–454. https://doi.org/10.1007/s00439-010-0939-8
Butler J (2010) Fundamentals of forensic DNA typing, 10th edn. Academic/Elsevier, Amsterdam
Chaitanya L, Walsh S, Andersen J, Ansell R, Ballantyne K, Ballard D et al (2014) Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour. Forensic Sci Int Genet 11:241–251. https://doi.org/10.1016/j.fsigen.2014.04.006
Claes P, Liberton D, Daniels K, Rosana K, Quillen E, Pearson L et al (2014) Modeling 3D facial shape from DNA. PLoS Genet 10(3):e1004224. https://doi.org/10.1371/journal.pgen.1004224
Draus-Barini J, Walsh S, Pośpiech E, Kupiec T, Głąb H, Branicki W, Kayser M (2013) Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains. Investig Genet 4(1):3. https://doi.org/10.1186/2041-2223-4-3
Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer K, Hansen L (2008) Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet 123(2):177–187. https://doi.org/10.1007/s00439-007-0460-x
Enserink M (2011). Can This DNA Sleuth Help Catch Criminals? Science 331(6019):838–840. https://doi.org/10.1126/science.331.6019.838
Frudakis T, Terravainen T, Thomas M (2007) Multilocus OCA2 genotypes specify human iris colors. Hum Genet 122(3–4):311–326. https://doi.org/10.1007/s00439-007-0401-8
Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L et al (2007) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17(6):835–843. https://doi.org/10.1093/hmg/ddm355
Fujimoto A, Ohashi J, Nishida N, Miyagawa T, Morishita Y, Tsunoda T et al (2008) A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia. Hum Genet 124(2):179–185. https://doi.org/10.1007/s00439-008-0537-1
Fujimoto A, Nishida N, Kimura R, Miyagawa T, Yuliwulandari R, Batubara L et al (2009) FGFR2 is associated with hair thickness in Asian populations. J Hum Genet 54(8):461–465. https://doi.org/10.1038/jhg.2009.61
Gaensslen R, Harris H, Lee H (2008) Introduction to forensics & criminalistics. McGraw-Hill Higher Education, New York
Garagnani P, Bacalini M, Pirazzini C, Gori D, Giuliani C, Mari D et al (2012) Methylation ofELOVL2gene as a new epigenetic marker of age. Aging Cell 11(6):1132–1134. https://doi.org/10.1111/acel.12005
Genomic Research (2020) Retrieved 15 July 2020, from https://ghr.nlm.nih.gov/primer/genomicresearch/snp
Goodwin W, Linacre A, Hadi S (2007) An introduction to forensic genetics. Wiley, pp 1–5
Goodwin W, Linacre A, Hadi S (2008) An introduction to forensic genetics. Chichester: Wiley
Greenwood V (2016) How science is putting a new face on crime solving. Retrieved 26 July 2020, from https://www.nationalgeographic.com/magazine/2016/07/forensic-science-justice-crime-evidence/
Grimes E, Noake P, Dixon L, Urquhart A (2001) Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. Forensic Sci Int 122(2–3):124–129. https://doi.org/10.1016/s0379-0738(01)00480-7
Hallgrimsson B, Mio W, Marcucio R, Spritz R (2014) Let’s face it – complex traits are just not that simple. PLoS Genet 10(11):e1004724. https://doi.org/10.1371/journal.pgen.1004724
Hamano Y, Manabe S, Morimoto C, Fujimoto S, Ozeki M, Tamaki K (2016) Forensic age prediction for dead or living samples by use of methylation-sensitive high resolution melting. Legal Med 21:5–10. https://doi.org/10.1016/j.legalmed.2016.05.001
Hart K, Kimura S, Mushailov V, Budimlija Z, Prinz M, Wurmbach E (2013) Improved eye- and skin-color prediction based on 8 SNPs. Croat Med J 54(3):248–256. https://doi.org/10.3325/cmj.2013.54.248
Heilmann S, Kiefer A, Fricker N, Drichel D, Hillmer A, Herold C et al (2013) Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Investig Dermatol 133(6):1489–1496. https://doi.org/10.1038/jid.2013.43
Identitas – Forensic Phenotyping (2020) Retrieved 28 July 2020, from https://www.identitascorp.com/
Kayser M (2015) Forensic DNA Phenotyping: Predicting human appearance from crime scene material for investigative purposes. Forensic Sci Int Genet 18:33–48. https://doi.org/10.1016/j.fsigen.2015.02.003
Kayser M, de Knijff P (2011) Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet 12(3):179–192. https://doi.org/10.1038/nrg2952
Kayser M, Schneider P (2009) DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet 3(3):154–161. https://doi.org/10.1016/j.fsigen.2009.01.012
Kayser M, Liu F, Janssens A, Rivadeneira F, Lao O, van Duijn K et al (2008) Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 82(2):411–423. https://doi.org/10.1016/j.ajhg.2007.10.003
Keating B, Bansal A, Walsh S, Millman J, Newman J, Kidd K et al (2012) 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 127(3):559–572. https://doi.org/10.1007/s00414-012-0788-1
King T, Fortes G, Balaresque P, Thomas M, Balding D, Delser P et al (2014) Identification of the remains of King Richard III. Nat Commun 5(1). https://doi.org/10.1038/ncomms6631
Koops B, Schellekens M (2006) Forensic DNA Phenotyping: Regulatory Issues. SSRN Electronic Journal 9(1):158–202. https://doi.org/10.2139/ssrn.975032
Laan M (2017) The genetic witness: forensic DNA phenotyping. Retrieved 26 July 2020, from https://jefsr.uwindsor.ca/index.php/jefsr/article/view/5005
Lango Allen H, Estrada K, Lettre G, Berndt S, Weedon M, Rivadeneira F et al (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467(7317):832–838. https://doi.org/10.1038/nature09410
Li R (2008) Forensic biology. CRC Press/Taylor & Francis, Boca Raton
Li R, Brockschmidt F, Kiefer A, Stefansson H, Nyholt D, Song K et al (2012) Six novel susceptibility loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet 8(5):e1002746. https://doi.org/10.1371/journal.pgen.1002746
Liu F, van Duijn K, Vingerling J, Hofman A, Uitterlinden A, Janssens A, Kayser M (2009) Eye color and the prediction of complex phenotypes from genotypes. Curr Biol 19(5):R192–R193. https://doi.org/10.1016/j.cub.2009.01.027
Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty M, Hysi P et al (2012) A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet 8(9):e1002932. https://doi.org/10.1371/journal.pgen.1002932
Liu F, Hendriks A, Ralf A, Boot A, Benyi E, Sävendahl L et al (2013) Common DNA variants predict tall stature in Europeans. Hum Genet 133(5):587–597. https://doi.org/10.1007/s00439-013-1394-0
MacLean CE (2013) Creating a wanted poster from a drop of blood: using DNA phenotyping to generate an artist’s rendering of an offender based only on DNA shed at the crime scene. Hamline Law Rev 36(3):1. Available at: http://digitalcommons.hamline.edu/hlr/vol36/iss3/1
Marano L, Fridman C (2019) DNA phenotyping: current application in forensic science. Res Rep Forensic Med Sci 9:1–8. https://doi.org/10.2147/rrfms.s164090
Marcus S, Monique M (2015) Recent developments in DNA evidence | Australian Institute of Criminology. Retrieved 26 July 2020, from https://www.aic.gov.au/publications/tandi/tandi506
Maroñas O, Phillips C, Söchtig J, Gomez-Tato A, Cruz R, Alvarez-Dios J et al (2014) Development of a forensic skin colour predictive test. Forensic Sci Int Genet 13:34–44. https://doi.org/10.1016/j.fsigen.2014.06.017
Matheson S (2016) DNA phenotyping: snapshot of a criminal. Cell 166(5):1061–1064. https://doi.org/10.1016/j.cell.2016.08.016
Medland S, Nyholt D, Painter J, McEvoy B, McRae A, Zhu G et al (2009a) Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet 85(5):750–755. https://doi.org/10.1016/j.ajhg.2009.10.009
Medland S, Zhu G, Martin N (2009b) Estimating the heritability of hair curliness in twins of European ancestry. Twin Res Hum Genet 12(5):514–518. https://doi.org/10.1375/twin.12.5.514
Mehta B, Daniel R, Phillips C, McNevin D (2016) Forensically relevant SNaPshot® assays for human DNA SNP analysis: a review. Int J Legal Med 131(1):21–37. https://doi.org/10.1007/s00414-016-1490-5
Mengel-From J, Børsting C, Sanchez J, Eiberg H, Morling N (2010) Human eye colour and HERC2, OCA2 and MATP. Forensic Sci Int Genet 4(5):323–328. https://doi.org/10.1016/j.fsigen.2009.12.004
Murnaghan I (2019) RFLP Analysis. Retrieved 15 July 2020, from http://www.exploredna.co.uk/rflp-analysis.html
Murphy E (2013) Legal and ethical issues in forensic DNA phenotyping. New York University School of Law, Public Law & Legal Theory Research Paper Series Working Paper No. 13–46, pp 1–36
Parabon NanoLabs: Engineering DNA for Next-Generation Therapeutics and Forensics (2016). Retrieved 26 July 2020, from https://www.parabon-nanolabs.com/
Parabon® Snapshot® DNA Analysis Service – Powered by Parabon NanoLabs (2020). Retrieved 28 July 2020, from https://snapshot.parabon-nanolabs.com/
Paternoster L, Zhurov A, Toma A, Kemp J, St. Pourcain B, Timpson N et al (2012) Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with Nasion position. Am J Hum Genet 90(3):478–485. https://doi.org/10.1016/j.ajhg.2011.12.021
Phillips C (2015) Forensic genetic analysis of bio-geographical ancestry. Forensic Sci Int Genet 18:49–65. https://doi.org/10.1016/j.fsigen.2015.05.012
Pierre Piazza (2006) Alphonse Bertillon and the Identification of Persons (1880–1914), Musée Criminocorpus. Published on 26 Aug 2016. Consulted on 13 July 2020 from https://criminocorpus.org/en/ref/25/18341/
Pneuman A, Budimlija Z, Caragine T, Prinz M, Wurmbach E (2012) Verification of eye and skin color predictors in various populations. Legal Med 14(2):78–83. https://doi.org/10.1016/j.legalmed.2011.12.005
Pollack A (2015) Building a Face, and a Case, on DNA. The New York Times. Retrieved from https://www.nytimes.com/2015/02/24/science/building-face-and-a-caseon-dna.html?_r=1 on 17 July 2020
Redler S, Brockschmidt F, Tazi-Ahnini R, Drichel D, Birch M, Dobson K et al (2012) Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss. Br J Dermatol 166(6):1314–1318. https://doi.org/10.1111/j.1365-2133.2012.10877.x
Richards J, Yuan X, Geller F, Waterworth D, Bataille V, Glass D et al (2008) Male-pattern baldness susceptibility locus at 20p11. Nature Genetics 40(11):1282–1284. https://doi.org/10.1038/ng.255
Ruiz Y, Phillips C, Gomez-Tato A, Alvarez-Dios J, Casares de Cal M, Cruz R et al (2013) Further development of forensic eye color predictive tests. Forensic Sci Int Genet 7(1):28–40. https://doi.org/10.1016/j.fsigen.2012.05.009
Samuel G, Prainsack B (2018) Forensic DNA phenotyping in Europe: views “on the ground” from those who have a professional stake in the technology. New Genet Soc 38(2):119–141. https://doi.org/10.1080/14636778.2018.1549984
Spichenok O, Budimlija Z, Mitchell A, Jenny A, Kovacevic L, Marjanovic D et al (2011) Prediction of eye and skin color in diverse populations using seven SNPs. Forensic Sci Int Genet 5(5):472–478. https://doi.org/10.1016/j.fsigen.2010.10.005
Stranger B, Stahl E, Raj T (2010) Progress and promise of genome-wide association studies for human complex trait genetics. Genetics 187(2):367–383. https://doi.org/10.1534/genetics.110.120907
Sturm R, Duffy D, Zhao Z, Leite F, Stark M, Hayward N et al (2008) A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am J Hum Genet 82(2):424–431. https://doi.org/10.1016/j.ajhg.2007.11.005
Sulem P, Gudbjartsson D, Stacey S, Helgason A, Rafnar T, Magnusson K et al (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39(12):1443–1452. https://doi.org/10.1038/ng.2007.13
Toom V (2012) Bodies of science and law: forensic DNA profiling, biological bodies, and biopower. J Law Soc 39(1):150–166. https://doi.org/10.1111/j.1467-6478.2012.00575.x
Valenzuela R, Henderson M, Walsh M, Garrison N, Kelch J, Cohen-Barak O et al (2010) Predicting phenotype from genotype: normal pigmentation. J Forensic Sci 55(2):315–322. https://doi.org/10.1111/j.1556-4029.2009.01317.x
Walsh S, Lindenbergh A, Zuniga S, Sijen T, de Knijff P, Kayser M, Ballantyne K (2011a) Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence. Forensic Sci Int Genet 5(5):464–471. https://doi.org/10.1016/j.fsigen.2010.09.008
Walsh S, Liu F, Ballantyne K, van Oven M, Lao O, Kayser M (2011b) IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet 5(3):170–180. https://doi.org/10.1016/j.fsigen.2010.02.004
Walsh S, Liu F, Wollstein A, Kovatsi L, Ralf A, Kosiniak-Kamysz A et al (2013) The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA. Forensic Sci Int Genet 7(1):98–115. https://doi.org/10.1016/j.fsigen.2012.07.005
Walsh S, Chaitanya L, Clarisse L, Wirken L, Draus-Barini J, Kovatsi L et al (2014) Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage. Forensic Sci Int Genet 9:150–161. https://doi.org/10.1016/j.fsigen.2013.12.006
Weidner C, Lin Q, Koch C, Eisele L, Beier F, Ziegler P et al (2014) Aging of blood can be tracked by DNA methylation changes at just three CpG sites. Genome Biol 15(2):R24. https://doi.org/10.1186/gb-2014-15-2-r24
Yi S, Xu L, Mei K, Yang R, Huang D (2014) Isolation and identification of age-related DNA methylation markers for forensic age-prediction. Forensic Sci Int Genet 11:117–125. https://doi.org/10.1016/j.fsigen.2014.03.006
Zubakov D, Liu F, van Zelm M, Vermeulen J, Oostra B, van Duijn C et al (2010) Estimating human age from T-cell DNA rearrangements. Current Biology 20(22):R970–R971. https://doi.org/10.1016/j.cub.2010.10.022
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Singapore Pte Ltd.
About this entry
Cite this entry
Vajpayee, K., Shukla, R.K. (2022). DNA Phenotyping: The Technique of the Future. In: Dash, H.R., Shrivastava, P., Lorente, J.A. (eds) Handbook of DNA Profiling. Springer, Singapore. https://doi.org/10.1007/978-981-16-4318-7_54
Download citation
DOI: https://doi.org/10.1007/978-981-16-4318-7_54
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-16-4317-0
Online ISBN: 978-981-16-4318-7
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences