Forensic DNA profiling based on short tandem repeat (STR) markers currently allows the identification of persons already known to the investigating authorities. This technology has recently been improved in terms of the ability to analyse degraded DNA and low amounts of DNA, and has increased discrimination power.
There are still some technical limitations to STR profiling, some of which can be overcome by using SNPs, which are more suitable for dealing with highly degraded DNA. Although the existing STR-based forensic DNA databases make it unlikely that SNPs will replace STRs for universal identification, SNPs are likely to improve human identification in disaster victim identification and in kinship analysis.
The limitation of currently used Y-chromosomal STRs (Y-STRs) for male identification from male/female mixed samples is that it only allows the identification of groups of paternally related males. This can be overcome by applying rapidly mutating Y-STRs that provide male relative differentiation in many cases, allowing individual male identification via Y chromosome analysis.
STR or SNP profiling can only identify persons previously known to the investigating authorities, a limitation that could be solved by forensic DNA phenotyping; that is, the inference of externally visible traits and biogeographic ancestry from crime scene DNA to provide intelligence leads for a police investigation that is searching for unknown persons.
DNA-based biogeographic ancestry inferences are already possible on the level of at least larger geographic regions such as continents, and partly on subregional levels, using suitable SNPs that also allow the reconstruction of mixed ancestry. DNA-based inferences with a resolution of single countries are unlikely to ever become available.
Current DNA-based appearance prediction includes group-specific traits such as eye colour, hair colour and age with categorical prediction accuracies suitable for practical applications, and additional group-specific traits such as skin colour, hair morphology or baldness may follow. Individual-specific DNA-based facial morphology prediction would be most appreciated for finding unknown persons, but is currently beyond our level of genetic knowledge.
mRNA-based determination of the cellular origin of a crime scene sample, as is now possible for most relevant tissues in forensic practice, including skin, provides more accuracy than previously used presumptive methods. The use of DNA methylation markers for this purpose appears promising.
Estimating the deposition time of a crime scene blood sample by using circadian biomarkers has become possible, although more markers are needed for detailed timing. Furthermore, estimating sample age based on differential RNA degradation appears promising.
Future prospects include using next-generation (PCR-free) sequencing technologies to improve human identification in heavily degraded and mixed samples, more detailed DNA reconstruction of human appearance to allow stringent concentration of police investigation in the search for unknown suspects, and more detailed molecular approaches for crime scene reconstruction, such as in sample deposition timing and perhaps in the reconstruction of the physiological conditions of victims and perpetrators during criminal acts.
Forensic DNA profiling currently allows the identification of persons already known to investigating authorities. Recent advances have produced new types of genetic markers with the potential to overcome some important limitations of current DNA profiling methods. Moreover, other developments are enabling completely new kinds of forensically relevant information to be extracted from biological samples. These include new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts. Such advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future.
Subscribe to Journal
Get full journal access for 1 year
only $4.92 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Tax calculation will be finalised during checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
Jobling, M. A. & Gill, P. Encoded evidence: DNA in forensic analysis. Nature Rev. Genet. 5, 739–751 (2004).
Vogel, F. & Motulski, A. G. Human Genetics: Problems and Approaches 229–239 (Springer, Berlin, 1996).
Ayres, K. L. Relatedness testing in subdivided populations. Forensic Sci. Int. 114, 107–115 (2000).
Yoshida, K., Yayama, K., Hatanaka, A. & Tamaki, K. Efficacy of extended kinship analyses utilizing commercial STR kit in establishing personal identification. Leg. Med. 13, 12–15 (2011).
Sanchez, J. J. et al. A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis 27, 1713–1724 (2006).
Dixon, L. A. et al. Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes. Forensic Sci. Int. 154, 62–77 (2005).
Westen, A. A. et al. Tri-allelic SNP markers enable analysis of mixed and degraded DNA samples. Forensic Sci. Int. Genet. 3, 233–241 (2009).
Pakstis, A. J. et al. SNPs for a universal individual identification panel. Hum. Genet. 127, 315–324 (2010). A comprehensive study that indentified numerous SNPs with characteristics that are highly suitable for universal human identification purposes.
Kidd, K. K. et al. Developing a SNP panel for forensic identification of individuals. Forensic Sci. Int. 164, 20–32 (2006).
Rixun, F. et al. Multiplexed SNP detection panels for human identification. Forensic Sci. Int. Genet. 2, 538–539 (2009).
Prinz, M. et al. DNA Commission of the International Society for Forensic Genetics (ISFG): recommendations regarding the role of forensic genetics for disaster victim identification (DVI). Forensic Sci. Int. Genet. 1, 3–12 (2007).
Biesecker, L. G. et al. Epidemiology. DNA identifications after the 9/11 World Trade Center attack. Science 310, 1122–1123 (2005).
Phillips, C. et al. Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. Forensic Sci. Int. Genet. 2, 198–204 (2008).
Roewer, L. Y chromosome STR typing in crime casework. Forensic Sci. Med. Pathol. 5, 77–84 (2009).
Kayser, M. et al. Evaluation of Y-chromosomal STRs: a multicenter study. Int. J. Legal Med. 110, 125–133, 141–149 (1997).
Mulero, J. J. et al. Development and validation of the AmpFlSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system. J. Forensic Sci. 51, 64–75 (2006).
Willuweit, S. & Roewer, L. Y chromosome haplotype reference database (YHRD): update. Forensic Sci. Int. Genet. 1, 83–87 (2007).
Hedman, M., Pimenoff, V., Lukka, M., Sistonen, P. & Sajantila, A. Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages. Forensic Sci. Int. 142, 37–43 (2004).
Vermeulen, M. et al. Improving global and regional resolution of male lineage differentiation by simple single-copy Y-chromosomal short tandem repeat polymorphisms. Forensic Sci. Int. Genet. 3, 205–213 (2009).
Hedman, M., Neuvonen, A. M., Sajantila, A. & Palo, J. U. Dissecting the Finnish male uniformity: the value of additional Y-STR loci. Forensic Sci. Int. Genet. 28 Apr 2010 (doi:10.1016/j.fsigen.2010.03.007).
Kayser, M. et al. A comprehensive survey of human Y-chromosomal microsatellites. Am. J. Hum. Genet. 74, 1183–1197 (2004).
de Knijff, P. Son, give up your gun: presenting Y-STR results in court. Profiles in DNA 6, 3–5 (2003).
Brenner, C. H. Fundamental problem of forensic mathematics — the evidential value of a rare haplotype. Forensic Sci. Int. Genet. 4, 281–291 (2010).
Roewer, L. et al. A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males. Forensic Sci. Int. 114, 31–43 (2000).
Goedbloed, M. et al. Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit. Int. J. Legal Med. 123, 471–482 (2009).
Ballantyne, K. N. et al. Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am. J. Hum. Genet. 87, 341–353 (2010). A comprehensive Y-STR mutation rate study that introduced rapidly mutating Y-STRs with high value for male relative differentiation in forensic applications.
Calacal, G. C. et al. Identification of exhumed remains of fire tragedy victims using conventional methods and autosomal/Y-chromosomal short tandem repeat DNA profiling. Am. J. Forensic Med. Pathol. 26, 285–291 (2005).
Kayser, M. & Schneider, P. M. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci. Int. Genet. 3, 154–161 (2009).
Spinney, L. Eyewitness identification: line-ups on trial. Nature 453, 442–444 (2008).
Royal, C. D. et al. Inferring genetic ancestry: opportunities, challenges, and implications. Am. J. Hum. Genet. 86, 661–673 (2010).
Weiss, K. M. & Long, J. C. Non-Darwinian estimation: my ancestors, my genes' ancestors. Genome Res. 19, 703–710 (2009).
Ohno, S. The Malthusian parameter of ascents: what prevents the exponential increase of one's ancestors? Proc. Natl Acad. Sci. USA 93, 15276–15278 (1996).
Rohde, D. L., Olson, S. & Chang, J. T. Modelling the recent common ancestry of all living humans. Nature 431, 562–566 (2004).
Handley, L. J., Manica, A., Goudet, J. & Balloux, F. Going the distance: human population genetics in a clinal world. Trends Genet. 23, 432–439 (2007).
Underhill, P. A. & Kivisild, T. Use of Y chromosome and mitochondrial DNA population structure in tracing human migrations. Annu. Rev. Genet. 41, 539–564 (2007).
Jobling, M. A. & Tyler-Smith, C. The human Y chromosome: an evolutionary marker comes of age. Nature Rev. Genet. 4, 598–612 (2003).
Seielstad, M. T., Minch, E. & Cavalli-Sforza, L. L. Genetic evidence for a higher female migration rate in humans. Nature Genet. 20, 278–280 (1998).
Oota, H., Settheetham-Ishida, W., Tiwawech, D., Ishida, T. & Stoneking, M. Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence. Nature Genet. 29, 20–21 (2001).
Karafet, T. M. et al. New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 18, 830–838 (2008).
Chiaroni, J., Underhill, P. A. & Cavalli-Sforza, L. L. Y chromosome diversity, human expansion, drift, and cultural evolution. Proc. Natl Acad. Sci. USA 106, 20174–20179 (2009).
van Oven, M. & Kayser, M. Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum. Mutat. 30, e386–e394 (2009).
Behar, D. M. et al. The Genographic Project public participation mitochondrial DNA database. PLoS Genet. 3, e104 (2007).
Wetton, J. H., Tsang, K. W. & Khan, H. Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs. Forensic Sci. Int. 152, 45–53 (2005).
Corach, D. et al. Inferring continental ancestry of Argentineans from Autosomal, Y-chromosomal and mitochondrial DNA. Ann. Hum. Genet. 74, 65–76 (2010).
King, T. E. et al. Africans in Yorkshire? The deepest-rooting clade of the Y phylogeny within an English genealogy. Eur. J. Hum. Genet. 15, 288–293 (2007).
Kayser, M. et al. Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol. Biol. Evol. 23, 2234–2244 (2006).
Li, J. Z. et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 319, 1100–1104 (2008). The first study (together with reference 48) to describe global human population substructure retrievable from dense SNP microarray data, and to demonstrate that continental biogeographic ancestry inference from autosomal SNPs is feasible.
Jakobsson, M. et al. Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451, 998–1003 (2008).
Bryc, K. et al. Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proc. Natl Acad. Sci. USA 107, 786–791 (2010).
Reich, D., Thangaraj, K., Patterson, N., Price, A. L. & Singh, L. Reconstructing Indian population history. Nature 461, 489–494 (2009).
The HUGO Pan-Asian SNP Consortium. Mapping human genetic diversity in Asia. Science 326, 1541–1545 (2009).
Lao, O. et al. Correlation between genetic and geographic structure in Europe. Curr. Biol. 18, 1241–1248 (2008). The first study to describe human population substructure in Europe retrievable from dense SNP microarray data, and to demonstrate that regional biogeographic ancestry inference within Europe from autosomal SNPs is feasible.
Phillips, C. et al. Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs. Forensic Sci. Int. Genet. 1, 273–280 (2007).
Kersbergen, P. et al. Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans. BMC Genet. 10, 69 (2009).
Kosoy, R. et al. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum. Mutat. 30, 69–78 (2009).
Lao, O. et al. Evaluating self-declared ancestry of U. S. Americans with autosomal, Y-chromosomal and mitochondrial DNA. Hum. Mutat. 31, e1875–e1893 (2010).
Phillips, C. et al. Ancestry analysis in the 11-M Madrid bomb attack investigation. PLoS ONE 4, e6583 (2009).
Kayser, M. et al. Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis. Hum. Genet. 117, 428–443 (2005).
Travis, J. Forensic science. Scientists decry isotope, DNA testing of 'nationality'. Science 326, 30–31 (2009).
Sulem, P. et al. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nature Genet. 39, 1443–1452 (2007). The first study that investigated human pigmentation with the GWA approach.
Kayser, M. et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet. 82, 411–423 (2008).
Han, J. et al. A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet. 4, e1000074 (2008).
Stokowski, R. P. et al. A genomewide association study of skin pigmentation in a South Asian population. Am. J. Hum. Genet. 81, 1119–1132 (2007).
Liu, F. et al. Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet. 6, e1000934 (2010).
Sulem, P. et al. Two newly identified genetic determinants of pigmentation in Europeans. Nature Genet. 40, 835–837 (2008).
Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832–838 (2010). Currently the most comprehensive GWA study of an externally visible trait, namely body height. Height serves as a model for human complex traits.
Medland, S. E. et al. Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am. J. Hum. Genet. 85, 750–755 (2009).
Mou, C. et al. Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form. Hum. Mutat. 29, 1405–1411 (2008).
Fujimoto, A. et al. A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum. Mol. Genet. 17, 835–843 (2008).
Beaty, T. H. et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genet. 42, 525–529 (2010).
Mangold, E. et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nature Genet. 42, 24–26 (2010).
Shimomura, Y., Wajid, M., Petukhova, L., Kurban, M. & Christiano, A. M. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Am. J. Hum. Genet. 86, 632–638 (2010).
Hillmer, A. M. et al. Susceptibility variants for male-pattern baldness on chromosome 20p11. Nature Genet. 40, 1279–1281 (2008).
Richards, J. B. et al. Male-pattern baldness susceptibility locus at 20p11. Nature Genet. 40, 1282–1284 (2008).
Liu, F. et al. Eye color and the prediction of complex phenotypes from genotypes. Curr. Biol. 19, R192–R193 (2009). A comprehensive study showing that categorical eye colour is predictable with high accuracy from DNA variants.
Walsh, S. et al. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci. Int. Genet. 27 Mar 2010 (doi:10.1016/j.fsigen.2010.02.004).
Walsh, S. et al. Developmental validation of the IrisPlex system: determination of blue and brown iris colour for forensic intelligence. Forensic Sci. Int. Genet. 12 Oct 2010 (doi:10.1016/j.fsigen.2010.09.008). This study delivered the first forensically validated DNA test for predicting an externally visible trait, namely eye colour.
Valenzuela, R. K. et al. Predicting phenotype from genotype: normal pigmentation. J. Forensic Sci. 55, 315–322 (2010).
Mengel-From, J., Borsting, C., Sanchez, J. J., Eiberg, H. & Morling, N. Human eye colour and HERC2, OCA2 and MATP. Forensic Sci. Int. Genet. 4, 323–328 (2010).
Valverde, P., Healy, E., Jackson, I., Rees, J. L. & Thody, A. J. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nature Genet. 11, 328–330 (1995).
Beaumont, K. A., Shekar, S. N., Cook, A. L., Duffy, D. L. & Sturm, R. A. Red hair is the null phenotype of MC1R. Hum. Mutat. 29, e88–e94 (2008).
Grimes, E. A., Noake, P. J., Dixon, L. & Urquhart, A. Sequence polymorphism in the human melanocortin 1 receptor gene as an indicator of the red hair phenotype. Forensic Sci. Int. 122, 124–129 (2001).
Branicki, W. et al. Model-based prediction of human hair color using DNA variants. Hum. Genet. 4 Jan 2011 (doi 10.1007/s00439-010-0939–0938).
Lao, O., de Gruijter, J. M., van Duijn, K., Navarro, A. & Kayser, M. Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms. Ann. Hum. Genet. 71, 354–369 (2007).
Aulchenko, Y. S. et al. Predicting human height by Victorian and genomic methods. Eur. J. Hum. Genet. 17, 1070–1075 (2009).
Estrada, K. et al. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Hum. Mol. Genet. 18, 3516–3524 (2009).
Meissner, C. & Ritz-Timme, S. Molecular pathology and age estimation. Forensic Sci. Int. 203, 34–43 (2010).
Lu, T. et al. Gene regulation and DNA damage in the ageing human brain. Nature 429, 883–891 (2004).
Teschendorff, A. E. et al. Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer. Genome Res. 20, 440–446 (2010).
Zubakov, D. et al. Estimating human age from T-cell DNA rearrangements. Curr. Biol. 20, R970–R971 (2010). This study showed that categorical age can be accurately estimated from blood, and delivered a DNA test for age estimation.
Virkler, K. & Lednev, I. K. Analysis of body fluids for forensic purposes: from laboratory testing to non-destructive rapid confirmatory identification at a crime scene. Forensic Sci. Int. 188, 1–17 (2009).
Zubakov, D., Hanekamp, E., Kokshoorn, M., van Ijcken, W. & Kayser, M. Stable RNA markers for identification of blood and saliva stains revealed from whole genome expression analysis of time-wise degraded samples. Int. J. Legal Med. 122, 135–142 (2008).
Juusola, J. & Ballantyne, J. mRNA profiling for body fluid identification by multiplex quantitative RT-PCR. J. Forensic Sci. 52, 1252–1262 (2007).
Nussbaumer, C., Gharehbaghi-Schnell, E. & Korschineck, I. Messenger RNA profiling: a novel method for body fluid identification by real-time PCR. Forensic Sci. Int. 157, 181–186 (2006).
Haas, C., Klesser, B., Maake, C., Bar, W. & Kratzer, A. mRNA profiling for body fluid identification by reverse transcription endpoint PCR and realtime PCR. Forensic Sci. Int. Genet. 3, 80–88 (2009).
Fleming, R. I. & Harbison, S. The development of a mRNA multiplex RT-PCR assay for the definitive identification of body fluids. Forensic Sci. Int. Genet. 4, 244–256 (2010). A recent example of the use of mRNA multiplex assays for tissue identification in forensic practice.
Juusola, J. & Ballantyne, J. Multiplex mRNA profiling for the identification of body fluids. Forensic Sci. Int. 152, 1–12 (2005).
Liu, B. et al. Expression of membrane-associated mucins MUC1 and MUC4 in major human salivary glands. J. Histochem. Cytochem. 50, 811–820 (2002).
Fleming, R. I. & Harbison, S. The use of bacteria for the identification of vaginal secretions. Forensic Sci. Int. Genet. 4, 311–315 (2010).
Visser, M., Zubakov, D., Ballantyne, K. N. & Kayser, M. mRNA-based skin identification for forensic applications. Int. J. Legal Med. 11 Jan 2011 (doi:10.1007/s00414-010-0545–0542).
Zubakov, D., Kokshoorn, M., Kloosterman, A. & Kayser, M. New markers for old stains: stable mRNA markers for blood and saliva identification from up to 16-year-old stains. Int. J. Legal Med. 123, 71–74 (2009).
Ferri, G., Bini, C., Ceccardi, S. & Pelotti, S. Successful identification of two years old menstrual bloodstain by using MMP-11 shorter amplicons. J. Forensic Sci. 49, 1387 (2004).
Hanson, E. K., Lubenow, H. & Ballantyne, J. Identification of forensically relevant body fluids using a panel of differentially expressed microRNAs. Anal. Biochem. 387, 303–314 (2009). The first study to apply miRNA markers to forensic tissue identification.
Zubakov, D. et al. MicroRNA markers for forensic body fluid identification obtained from microarray screening and quantitative RT-PCR confirmation. Int. J. Legal Med. 124, 217–226 (2010).
Frumkin, D., Wasserstrom, A., Budowle, B. & Davidson, A. DNA methylation-based forensic tissue identification. Forensic Sci. Int. Genet. 31 Dec 2010 (doi:10.1016/j.fsigen.2010.12.001). This introduced the concept of DNA-methylation-based forensic tissue identification.
Bauer, M., Polzin, S. & Patzelt, D. Quantification of RNA degradation by semi-quantitative duplex and competitive RT-PCR: a possible indicator of the age of bloodstains? Forensic Sci. Int. 138, 94–103 (2003).
Anderson, S., Howard, B., Hobbs, G. R. & Bishop, C. P. A method for determining the age of a bloodstain. Forensic Sci. Int. 148, 37–45 (2005).
Anderson, S. E., Hobbs, G. R. & Bishop, C. P. Multivariate analysis for estimating the age of a bloodstain. J. Forensic Sci. 56, 186–193 (2010).
Ackermann, K., Ballantyne, K. N. & Kayser, M. Estimating trace deposition time with circadian biomarkers: a prospective and versatile tool for crime scene reconstruction. Int. J. Legal Med. 124, 387–395 (2010). The first study to demonstrate that estimating blood trace deposition time using circadian biomarkers is feasible in forensic applications.
Gupta, P. K. Single-molecule DNA sequencing technologies for future genomics research. Trends Biotechnol. 26, 602–611 (2008).
Milos, P. Helicos BioSciences. Pharmacogenomics 9, 477–480 (2008).
Forzano, F. et al. Italian appeal court: a genetic predisposition to commit murder? Eur. J. Hum. Genet. 18, 519–521 (2010).
Mulero, J. J. et al. Development and validation of the AmpFlSTR MiniFiler PCR Amplification Kit: a MiniSTR multiplex for the analysis of degraded and/or PCR inhibited DNA. J. Forensic Sci. 53, 838–852 (2008).
Welch, L. et al. A comparison of mini-STRs versus standard STRs-Results of a collaborative European (EDNAP) exercise. Forensic Sci. Int. Genet. 2 Mar 2010 (doi:10.1016/j.fsigen.2010.01.004).
van Oorschot, R. A. & Jones, M. K. DNA fingerprints from fingerprints. Nature 387, 767 (1997).
Dieltjes, P. et al. A sensitive method to extract DNA from biological traces present on ammunition for the purpose of genetic profiling. Int. J. Legal Med. 14 Apr 2010 (doi:10.1007/s00414-010-0454-4).
Webb, L. G., Egan, S. E. & Turbett, G. R. Recovery of DNA for forensic analysis from lip cosmetics. J. Forensic Sci. 46, 1474–1479 (2001).
Sweet, D. & Hildebrand, D. Saliva from cheese bite yields DNA profile of burglar: a case report. Int. J. Legal Med. 112, 201–203 (1999).
Budowle, B., Eisenberg, A. J. & van Daal, A. Validity of low copy number typing and applications to forensic science. Croat. Med. J. 50, 207–217 (2009).
Gill, P., Whitaker, J., Flaxman, C., Brown, N. & Buckleton, J. An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA. Forensic Sci. Int. 112, 17–40 (2000).
Balding, D. J. & Buckleton, J. Interpreting low template DNA profiles. Forensic Sci. Int. Genet. 4, 1–10 (2009).
McCartney, C. LCN DNA: proof beyond reasonable doubt? Nature Rev. Genet. 9, 325 (2008).
McCartney, C. Reply: LCN DNA: proof beyond reasonable doubt? — a response. Nature Rev. Genet. 9, 726 (2008).
Gill, P. LCN DNA: proof beyond reasonable doubt? — a response. Nature Rev. Genet. 9, 726 (2008).
Gilbert, N. Science in court: DNA's identity crisis. Nature 464, 347–348 (2010).
Schneider, P. M. Fall eines Phantoms — und die Folgen. Dtsch. Ärztebl. 106, 1239–1240 (2009).
Gill, P. et al. Manufacturer contamination of disposable plastic-ware and other reagents — an agreed position statement by ENFSI, SWGDAM and BSAG. Forensic Sci. Int. Genet. 4, 269–270 (2010).
Martin, P. D., Schmitter, H. & Schneider, P. M. A brief history of the formation of DNA databases in forensic science within Europe. Forensic Sci. Int. 119, 225–231 (2001).
Weir, B. S. The rarity of DNA profiles. Ann. Appl. Stat. 1, 358–370 (2007).
Council of the European Union Prüm Convention. Document 10900/05 [online], (2005).
Council of the European Union. Draft Council Resolution on the Exchange of DNA Analysis Results [online], (2009).
Gill, P., Fereday, L., Morling, N. & Schneider, P. M. New multiplexes for Europe-amendments and clarification of strategic development. Forensic Sci. Int. 163, 155–157 (2006).
Hill, C. R. et al. Concordance and population studies along with stutter and peak height ratio analysis for the PowerPlex® ESX 17 and ESI 17 Systems. Forensic Sci. Int. Genet. 22 Apr 2010 (doi:10.1016/j.fsigen.2010.03.014).
Gershaw, C. J., Schweighardt, A. J., Rourke, L. C. & Wallace, M. M. Forensic utilization of familial searches in DNA databases. Forensic Sci. Int. Genet. 5, 16–20 (2011).
Simons, D. H. Getting DNA to bear witness. U.S. News and World Report [online], (2003).
Nuffield Council on Bioethics. The forensic use of bioinformation: ethical issues. Nuffield Council on Bioethics [online], (2007).
Ossorio, P. N. About face: forensic genetic testing for race and visible traits. J. Law Med. Ethics 34, 277–292 (2006).
Cho, M. K. & Sankar, P. Forensic genetics and ethical, legal and social implications beyond the clinic. Nature Genet. 36, S8–S12 (2004).
Koops, B. J. & Schellekens, M. Forensic DNA phenotyping: regulatory issues. Columbia Sci. Technol. Law Rev. 9, 158–202 (2008).
M'Charek, A. Silent witness, articulate collective: DNA evidence and the inference of visible traits. Bioethics 22, 519–528 (2008).
Sankar, P. The proliferation and risks of government DNA databases. Am. J. Public Health 87, 336–337 (1997).
Eberhardt, J. L., Goff, P. A., Purdie, V. J. & Davies, P. G. Seeing black: race, crime, and visual processing. J. Pers. Soc. Psychol. 87, 876–893 (2004).
European Union. Art. 2(d) EU council decision 2008/616/JHA of 23 June 2008 on the implementation of Decision 2008/615/JHA on the stepping up of cross-border cooperation, particularly in combating terrorism and cross-border crime. Official Journal of the European Union [online], (2008).
Lao, O., van Duijn, K., Kersbergen, P., de Knijff, P. & Kayser, M. Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry. Am. J. Hum. Genet. 78, 680–690 (2006).
Hibbert, M. DNA databanks: law enforcement's greatest surveillance tool? Wake Forest Law Rev. 34, 767–825 (1999).
Koops, B. J. Technology and the crime society: rethinking legal protection. Law Innov. Technol. 1, 93–124 (2009).
Patterson, N., Price, A. L. & Reich, D. Population structure and eigenanalysis. PLoS Genet. 2, e190 (2006).
Zhang, J., Niyogi, P. & McPeek, M. S. Laplacian eigenfunctions learn population structure. PLoS ONE 4, e7928 (2009).
Pritchard, J. K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945–959 (2000).
Tang, H., Peng, J., Wang, P. & Risch, N. J. Estimation of individual admixture: analytical and study design considerations. Genet. Epidemiol. 28, 289–301 (2005).
Alexander, D. H., Novembre, J. & Lange, K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res. 19, 1655–1664 (2009).
We highly appreciate the contribution of P. Sankar and B.-J. Koops to box 2 on ethical aspects, and box 3 on legal implications of forensic DNA phenotyping, respectively. We are also very grateful to A. Pakstis and K. K. Kidd for providing data used in figure 1. We thank O. Lao, D. Zubakov, R. Koppenol and S. Walsh for preparing figures, as well as K. Ballantyne for help in literature survey. K. Ballantyne, P. Schneider and R. van Oorschot are gratefully acknowledged for valuable comments on an earlier version of the manuscript. We apologize to those colleagues whose work we were unable to cite owing to space restrictions. The work of the authors is supported by the Netherlands Forensic Institute, the Erasmus University Medical Center Rotterdam (M.K.), the Leiden University Medical Center (P.d.K.), and additionally by a grant from the Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) within the framework of the Forensic Genomics Consortium Netherlands (FGCN).
The authors declare no competing financial interests.
- Short tandem repeat
A DNA sequence containing a variable number (typically ≤50) of tandemly repeated short (2–6 bp) sequence motifs, such as (GATA)n. Forensically used STRs are usually tetranucleotide repeats, which have few stutter artefacts (see below).
- Forensic DNA databases
National databases held by the police or the justice system of defined short tandem repeat profiles, usually from persons convicted of a defined crime.
- Single nucleotide polymorphisms
DNA sequence variation concerning a single site (base pair) in the genome. The polymorphism is usually a substitution, but can sometimes be a single base pair insertion or deletion.
- Biogeographic ancestry
A concept of lineage that looks at kinship and descent based on biogeography, a combination of biology and geography.
- Low template DNA
The availability of just a few DNA molecules for DNA profiling.
- Allele drop-in
Addition of (typically) one or two alleles to a DNA profile, owing to contamination.
- Allele drop-out
Loss of one or both alleles in a DNA profile, owing to stochastic failure of PCR amplification, usually when the number of template molecules is small.
- Heterozygote peak imbalance
The proportion of the two alleles of a heterozygote genotype, expressed as the area of the smaller peak divided by the area of the larger peak in an electropherogram.
- PCR amplicon
DNA that is generated by PCR amplification.
- Stutter artefacts
Artefacts that occur by DNA-replication slippage during the PCR amplification of STRs. Most stutter artefacts seen with fluorescence-based STR analysis are one repeat shorter than the true allele.
- Multiplex genotyping
Simultaneous analysis of multiple genetic loci.
- Match probability
The chance of two unrelated individuals sharing a DNA profile.
- Population differentiation
Populations that differ to a certain extent in their genetic characteristics.
A specific Y chromosome or mitochondrial (mt) type defined by the combination of genotypes of more rapidly evolving markers, usually STRs on the Y chromosome for Y haplotypes, and the mtDNA sequences — including rapidly and slowly evolving sites — for mtDNA haplotypes.
- Bottleneck event
A marked reduction in population size followed by the survival and expansion of a small, random sample of the original population. It often results in the loss of genetic variation and more frequent matings among closely related individuals.
- Founder event
A situation in which a new population is founded by a small number of incoming individuals. Similar to a bottleneck, the founder effect severely reduces genetic diversity, increasing the effect of random drift.
- Genetic clusters and clines
Populations in close geographic proximity that have similar genetic characteristics (clusters), or populations that show a genetic frequency gradient that correlates with the geographic distances separating them (clines).
- Effective population size
The number of breeding individuals of an idealized population that has the same properties with respect to genetic drift as does the actual population in question.
- Genetic drift
The stochastic fluctuation of allele frequencies in a population owing to chance variations in the contribution of each individual to the next generation.
- Residence pattern
Referring to conventional rules or patterns of behaviour concerning the place a couple lives after marriage.
A specific Y chromosome or mitochondrial type defined by the combination of genotypes of slowly evolving binary markers usually SNPs on the Y chromosome or mtDNA, respectively.
- Hypervariable region
Part of mitochondrial DNA that is non-coding and therefore accumulates variation more than the coding parts.
- Intelligence-led policing
A strategic, future-oriented and targeted approach to crime control, focusing upon the identification, analysis and 'management' of persisting and developing 'problems' or 'risks'.
- Genetic admixture
The process of mixing of two or more groups whose ancestors had been separated (usually long before).
- Genetic population substructure
The absence of random mating within a population, leading to allele frequency differences among subpopulations.
- Ancestry-informative or ancestry-sensitive DNA markers
DNA markers that show marked allele frequency differences between populations from different geographic regions, and are therefore useful for determining the probable biogeographic ancestry of an individual.
- Principle component analysis
A multivariate analysis that provides a new coordinate system, the axes of which (the principal components) successively account for the maximum amount of variance and are uncorrelated with each other.
- Laplacian eigenvector
An analysis which — compared with, for example, principal component analysis (PCA) — is a statistical tool one can use to achieve dimension reduction of highly complex sets of (genetic) data. It has a major advantage over PCA in that it compares each individual only with its close neighbours, rather than with all other individuals (here, closeness refers to genetic relatedness, not geographic distance).
- Multidimensional scaling analysis
A dimensionality reduction technique, similar to principal component analysis, in which points in a high-dimensional space are projected into a lower-dimensional space while approximately preserving the distance between points.
- Genetic distance matrices
A matrix of values expressing the degree of genetic differentiation between two or more populations (or individuals).
- Bayesian cluster algorithms
A probabilistic technique for evaluating the grouping of individuals or populations. Hypotheses are evaluated by their posterior probabilities.
- Relative admixture proportions
The relative contribution of two or more parental populations to a hybrid population.
- Genome-wide association studies
Analysis across the genome using association models to identify regions that contribute to genetic variation in a phenotype. These studies typically analyse data from high-density SNP arrays.
- Skin reflectance
Measurable light reflectance of the skin, which depends (among other things) on skin pigmentation.
- DNA methylation
A DNA modification in which a methyl group is added to cytosine. Methylation inhibits gene expression and is maintained through DNA replication and cell division.
- TaqMan RT-PCR
A proprietary system (developed by Applied Biosystems) that allows the progression of a PCR reaction to be monitored in real time.
About this article
Cite this article
Kayser, M., de Knijff, P. Improving human forensics through advances in genetics, genomics and molecular biology. Nat Rev Genet 12, 179–192 (2011). https://doi.org/10.1038/nrg2952
Equivalent DNA methylation variation between monozygotic co-twins and unrelated individuals reveals universal epigenetic inter-individual dissimilarity
Genome Biology (2021)
European Journal of Human Genetics (2021)
Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations
Scientific Reports (2021)
International Journal of Legal Medicine (2021)
Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review
International Journal of Legal Medicine (2020)