DNA fingerprinting in forensics: past, present, future

Investigative Genetics

Lutz Roewer¹ 

[1] Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité - Universitätsmedizin Berlin, Berlin, Germany

关键词: Short tandem repeat;    Privacy rights;    Forensic DNA database;    Ancestry informative markers;    Lineage markers;    Short tandem repeat;    Forensic DNA profiling;    DNA fingerprinting;   

Others  :  801383
DOI  :  10.1186/2041-2223-4-22

 received in 2013-10-08, accepted in 2013-10-08,  发布年份 2013

【 摘 要 】

DNA fingerprinting, one of the great discoveries of the late 20th century, has revolutionized forensic investigations. This review briefly recapitulates 30 years of progress in forensic DNA analysis which helps to convict criminals, exonerate the wrongly accused, and identify victims of crime, disasters, and war. Current standard methods based on short tandem repeats (STRs) as well as lineage markers (Y chromosome, mitochondrial DNA) are covered and applications are illustrated by casework examples. Benefits and risks of expanding forensic DNA databases are discussed and we ask what the future holds for forensic DNA fingerprinting.

【 授权许可】

   
2013 Roewer; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

Figure 4.

Figure 5.

Figure 6.

【 参考文献 】

• [1]Doyle AC: A study in scarlet, Beeton’s Christmas Annual. London, New York and Melbourne: Ward, Lock & Co; 1887.
• [2]Jeffreys AJ, Wilson V, Thein SL: Individual-specific “fingerprints” of Human DNA. Nature 1985, 314:67-74.
• [3]Jeffreys AJ, Brookfield JF, Semeonoff R: Positive identification of an immigration test-case using human DNA fingerprints. Nature 1985, 317:818-819.
• [4]University of Leicester Bulletin Supplement August/September 2004.
• [5]Jeffreys AJ: Foreword. Fingerprint News 1989, 1:1.
• [6]Lander ES: DNA fingerprinting on trial. Nature 1989, 339:501-505.
• [7]Balding DJ: Evaluation of mixed-source, low-template DNA profiles in forensic science. Proc Natl Acad Sci U S A 2013, 110:12241-12246.
• [8]The innocence project. [http://www.innocenceproject.org webcite]
• [9]Jeffreys AJ, Wilson V, Thein SL: Hypervariable 'minisatellite’ regions in human DNA. Nature 1985, 314:67-73.
• [10]Schäfer R, Zischler H, Birsner U, Becker A, Epplen JT: Optimized oligonucleotide probes for DNA fingerprinting. Electrophoresis 1988, 9:369-374.
• [11]Budowle B, Giusti AM, Waye JS, Baechtel FS, Fourney RM, Adams DE, Presley LA, Deadman HA, Monson KL: Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons. Am J Hum Genet 1991, 48:841-855.
• [12]Roewer L, Nürnberg P, Fuhrmann E, Rose M, Prokop O, Epplen JT: Stain analysis using oligonucleotide probes specific for simple repetitive DNA sequences. Forensic Sci Int 1990, 47:59-70.
• [13]Wong Z, Wilson V, Patel I, Povey S, Jeffreys AJ: Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann Hum Genet 1987, 51:269-288.
• [14]Jobling MA, Hurles ME, Tyler-Smith C: Chapter 15: Identity and identification. In Human Evolutionary Genetics. Abingdon: Garland Science; 2003:474-497.
• [15]Edwards A, Civitello A, Hammond HA, Caskey CT: DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 1991, 49:746-756.
• [16]Budowle B, Chakraborty R, Giusti AM, Eisenberg AJ, Allen RC: Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. Am J Hum Genet 1991, 48:137-144.
• [17]Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA: Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature 1986, 324:163-166.
• [18]Coble MD, Butler JM: Characterization of new miniSTR loci to aid analysis of degraded DNA. J Forensic Sci 2005, 50:43-53.
• [19]Butler JM: Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers. 2nd edition. New York: Elsevier Academic Press; 2005.
• [20]Gill P, Fereday L, Morling N, Schneider PM: The evolution of DNA databases - Recommendations for new European STR loci. Forensic Sci Int 2006, 156:242-244.
• [21]Budowle B, Moretti TR, Niezgoda SJ, Brown BL: CODIS and PCR-based short tandem repeat loci: law enforcement tools. Madison, WI: Promega Corporation; 1998:73-88. [Proceedings of the Second European Symposium on Human Identification]
• [22]Nagy M, Otremba P, Krüger C, Bergner-Greiner S, Anders P, Henske B, Prinz M, Roewer L: Optimization and validation of a fully automated silica-coated magnetic beads purification technology in forensics. Forensic Sci Int 2005, 152:13-22.
• [23]Martin PD, Schmitter H, Schneider PM: A brief history of the formation of DNA databases in forensic science within Europe. Forensic Sci Int 2001, 119:225-231.
• [24]ENFSI survey on DNA Databases in Europe. December 2011, published 2012-08-18. [http://www.enfsi.eu webcite]
• [25]Roewer L, Parson W: Internet accessible population databases: YHRD and EMPOP. In Encyclopedia of Forensic Sciences. 2nd edition. Edited by Siegel JA, Saukko PJ. Amsterdam: Elsevier B.V; 2013.
• [26]Calacal GC, Delfin FC, Tan MM, Roewer L, Magtanong DL, Lara MC, Rd F, De Ungria MC: 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 2005, 26:285-291.
• [27]Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, Meyer CE, Niederstätter H, Berger C, Berger B, Falsetti AB, Gill P, Parson W, Finelli LN: Mystery solved: the identification of the two missing Romanov children using DNA analysis. PLoS One 2009, 4:e4838.
• [28]Haas C, Shved N, Rühli FJ, Papageorgopoulou C, Purps J, Geppert M, Willuweit S, Roewer L, Krawczak M: Y-chromosomal analysis identifies the skeletal remains of Swiss national hero Jörg Jenatsch (1596–1639). Forensic Sci Int Genet 2013, 7:610-617.
• [29]Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A, Vermeulen M, de Knijff P, Kayser M: A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet 2012, 6:208-218.
• [30]Budowle B, Sinha SK, Lee HS, Chakraborty R: Utility of Y-chromosome short tandem repeat haplotypes in forensic applications. Forensic Sci Rev 2003, 15:153-164.
• [31]Roewer L, Kayser M, de Knijff P, Anslinger K, Betz A, Caglià A, Corach D, Füredi S, Henke L, Hidding M, Kärgel HJ, Lessig R, Nagy M, Pascali VL, Parson W, Rolf B, Schmitt C, Szibor R, Teifel-Greding J, Krawczak M: 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 2000, 114:31-43.
• [32]Andersen MM, Caliebe A, Jochens A, Willuweit S, Krawczak M: Estimating trace-suspect match probabilities for singleton Y-STR haplotypes using coalescent theory. Forensic Sci Int Genet 2013, 7:264-271.
• [33]Willuweit S, Roewer L, International Forensic Y Chromosome User Group: Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet 2007, 1:83-87.
• [34]Parson W, Dür A: EMPOP - a forensic mtDNA database. Forensic Sci Int Genet 2007, 1:88-92.
• [35]Roewer L, Croucher PJ, Willuweit S, Lu TT, Kayser M, Lessig R, de Knijff P, Jobling MA, Tyler-Smith C, Krawczak M: Signature of recent historical events in the European Y-chromosomal STR haplotype distribution. Hum Genet 2005, 116:279-291.
• [36]Roewer L: Male DNA Fingerprints say more. Profiles in DNA 2004, 7:14-15.
• [37]Phillips C, Fondevila M, Lareu MV: A 34-plex autosomal SNP single base extension assay for ancestry investigations. Methods Mol Biol 2012, 830:109-126.
• [38]Pereira R, Phillips C, Pinto N, Santos C, dos Santos SE, Amorim A, Carracedo A, Gusmão L: Straightforward inference of ancestry and admixture proportions through ancestry-informative insertion deletion multiplexing. PLoS One 2012, 7:e29684.
• [39]Pakstis AJ, Fang R, Furtado MR, Kidd JR, Kidd KK: Mini-haplotypes as lineage informative SNPs and ancestry inference SNPs. Eur J Hum Genet 2012, 20:1148-1154.
• [40]Maguire CN, McCallum LA, Storey C, Whitaker JP: Familial searching: A specialist forensic DNA profiling service utilising the National DNA Database® to identify unknown offenders via their relatives - The UK experience. Forensic Sci Int Genet 2013, 8:1-9.
• [41]Jeffreys A: Genetic Fingerprinting. Nat Med 2005, 11:1035-1039.
• [42]Machado H, Silva S: Would you accept having your DNA profile inserted in the National Forensic DNA database? Why? Results of a questionnaire applied in Portugal. Forensic Sci Int Genet 2013. Epub ahead of print
• [43]Parson W, Strobl C, Strobl C, Huber G, Zimmermann B, Gomes SM, Souto L, Fendt L, Delport R, Langit R, Wootton S, Lagacé R, Irwin J: Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM). Forensic Sci Int Genet 2013, 7:632-639.
• [44]Budowle B, van Daal A: Forensically relevant SNP classes. Biotechniques 2008, 44:603-608. 610
• [45]Allen M, Nilsson M, Havsjö M, Edwinsson L, Granemo J, Bjerke M: Haloplex and MiSeq NGS for simultaneous analysis of 10 STRs, 386 SNPs and the complete mtDNA genome. Melbourne; 2013. [Presentation at the 25th Congress of the International Society for Forensic Genetics] 2–7 September 2013
• [46]Bandelt HJ, Salas A: Current next generation sequencing technology may not meet forensic standards. Forensic Sci Int Genet 2012, 6:143-145.
• [47]Tan E, Turingan RS, Hogan C, Vasantgadkar S, Palombo L, Schumm JW, Selden RF: Fully integrated, fully automated generation of short tandem repeat profiles. Investigative Genet 2013, 4:16. BioMed Central Full Text
• [48]Biesecker LG, Bailey-Wilson JE, Ballantyne J, Baum H, Bieber FR, Brenner C, Budowle B, Butler JM, Carmody G, Conneally PM, Duceman B, Eisenberg A, Forman L, Kidd KK, Leclair B, Niezgoda S, Parsons TJ, Pugh E, Shaler R, Sherry ST, Sozer A, Walsh A: DNA Identifications after the 9/11 World Trade Center Attack. Science 2005, 310:1122-1123.
• [49]Dolan SM, Saraiya DS, Donkervoort S, Rogel K, Lieber C, Sozer A: The emerging role of genetics professionals in forensic kinship DNA identification after a mass fatality: lessons learned from Hurricane Katrina volunteers. Genet Med 2009, 11:414-417.
• [50]Huffine E, Crews J, Kennedy B, Bomberger K, Zinbo A: Mass identification of persons missing from the break-up of the former Yugoslavia: structure, function, and role of the International Commission on Missing Persons. Croat Med J 2001, 42:271-275.
• [51]Corach D, Sala A, Penacino G, Iannucci N, Bernardi P, Doretti M, Fondebrider L, Ginarte A, Inchaurregui A, Somigliana C, Turner S, Hagelberg E: Additional approaches to DNA typing of skeletal remains: the search for “missing” persons killed during the last dictatorship in Argentina. Electrophoresis 1997, 18:1608-1612.
• [52]Levitt M: Forensic databases: benefits and ethical and social costs. Br Med Bull 2007, 83:235-248.