Skip to main content
SpringerLink
Log in

An Overview of DNA Typing Methods for Human Identification: Past, Present, and Future

  • Protocol
  • First Online:
DNA Electrophoresis Protocols for Forensic Genetics

Part of the book series: Methods in Molecular Biology ((MIMB,volume 830))

Abstract

This chapter presents a brief introduction to the historical development of current technologies used in DNA analysis for human identification. The text describes the development of the PCR and short tandem repeats along with subsequent advances in instrumentation such as real-time PCR and capillary electrophoresis. These techniques have brought about a revolution in DNA typing methods through increased efficiency and the application of multiplex fluorescence detection. More recently the development of new STR based typing methods utilizing mini- and Y-STR PCR multiplexes has increased the flexibility of the investigator, permitting the analysis of inhibited and degraded DNA. Future directions for DNA typing are also discussed, including the development of methods for touch samples based on low copy DNA analysis and the determination of tissue/cell type.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Wyman AR, White R. A highly polymorphic locus in human DNA. Proc. Nati. Acad. Sci. USA 1980; 77(11): 6754–6758.

    Article  CAS  Google Scholar 

  2. Botstein D, White R, Skulnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 1980; 32: 314–31.

    PubMed  CAS  Google Scholar 

  3. Jeffreys AJ, Wilson V, Thein SL. Hypervariable ‘minisatellite’ regions in human DNA. Nature 1985; 314: 67–73.

    Article  PubMed  CAS  Google Scholar 

  4. Jeffreys AJ, Brookfield JF, Semeonoff R. Positive identification of an immigration test-case using human DNA fingerprints. Nature 1985; 317: 818–819.

    Article  PubMed  CAS  Google Scholar 

  5. Aronson J. DNA fingerprinting on trial: the dramatic early history of a new forensic technique. Endeavour 2005; 29 (3):126–131.

    Article  PubMed  CAS  Google Scholar 

  6. Mullis KB. The unusual origin of the polymerase chain reaction. Sci. Am. 1990; 56–65.

    Google Scholar 

  7. Chou Q, Russell M, Birch DE, Raymond J, Bloch W. Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications. Nucleic Acids Research 1992; 20(7): 1717–1723.

    Article  PubMed  CAS  Google Scholar 

  8. Butler J, Buel E, Crivelente F, McCord B. Forensic DNA typing by capillary electrophoresis, Electrophoresis, 2004; 25(10–11): 1397–1412.

    Article  PubMed  CAS  Google Scholar 

  9. Mullis K, Ferr F, Gibbs, R. Polymerase Chain Reaction. Birkhäuser: Boston, MA, 1994.

    Google Scholar 

  10. Reynolds R, Sensabaugh G, Blake E. Analysis of genetic markers in forensic DNA samples using the polymerase chain reaction. Anal Chem. 1991; 63: 2–15.

    Article  PubMed  CAS  Google Scholar 

  11. Duncan GT, Balamurugan K, Budowle B, Smerick J, Tracey ML. Microvariation at the human D1S80 locus. Int. J. Legal Med. 1997; 110: 150–154.

    Article  PubMed  CAS  Google Scholar 

  12. Tracey M. Short tandem repeat based identification of individuals and parents, Croat Med. J. 2001; 42(3): 233–238.

    PubMed  CAS  Google Scholar 

  13. Budowle B, Moretti TR, Baumstark AL, Defenbaugh DA, Keys KM. Population data on the thirteen CODIS core short tandem repeat loci in African Americans, U.S. Caucasians, Hispanics, Bahamians, Jamaicans and Trinidadians. J. Forensic Sci. 1999; 44(6): 1277–86.

    Google Scholar 

  14. Sullivan KM, Mannucci A, Kimpton CP, Gill P. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. BioTechniques 1993; 15: 637–41.

    Google Scholar 

  15. Comey CT. DNA extraction strategies of amplified fragment polymorphism analysis J. Forensic Sci. 1994; 39: 1254–1269.

    CAS  Google Scholar 

  16. Vandenberg N, van Oorschot RA, Mitchell RJ. An evaluation of selected DNA extraction strategies for short tandem repeat typing. Electrophoresis 1997; 18: 1624–1626.

    Article  PubMed  CAS  Google Scholar 

  17. Higuchi R, Fockler C, Dollinger G, Watson R. Kinetic PCR: Real time monitoring of DNA amplification reactions. Biotechnology 1993; 11: 1026–1030.

    Google Scholar 

  18. Nicklas JA, Buel E. Development of an Alu-based, Real-Time PCR Method for Quantitation of Human DNA in Forensic Samples. J. Forensic Sci. 2003; 48(5).

    Google Scholar 

  19. Kline MC, Duewer DL, Redman JW, Butler, JM. Results from the NIST 2004 DNA quantification study 2005; 50: 571–578.

    Google Scholar 

  20. McCord BR, McClure DM, Jung JM. Capillary Electrophoresis of PCR-Amplified DNA using Fluorescence Detection with an Intercalating Dye J. Chromat. 1993; 651: 75–82.

    Google Scholar 

  21. Butler JM, Shen Y, McCord BR. The Development of reduced size STR Amplicons as Tools for the Analysis of Degraded DNA. J. Forensic Sci. 2003; 48(5): 1054–64.

    PubMed  CAS  Google Scholar 

  22. Rosenblum BB, Oaks F, Menchen S, Johnsopn B. Improved single-strand DNA sizing accuracy in capillary electrophoresis. Nucleic Acids Research 1997; 25: 3925–3929.

    Article  PubMed  CAS  Google Scholar 

  23. Altria KD. Capillary electrophoresis guidebook: Principles, operation, and applications. Humana Press: Totowa, NJ, USA 1995.

    Google Scholar 

  24. Moreno LI, McCord B. Separation of DNA for Forensic Applications, in Handbook of Capillary Electrophoresis. Landers, J., Ed, CRC Press, Boca Raton, FL. 2008, pp. 761–784.

    Google Scholar 

  25. Opel KL, Chung DT, Drábek J, Tatarek NE, Jantz LM, McCord BR. The Application of Miniplex Primer Sets in the Analysis of Degraded DNA from Human Skeletal Remains. J. Forensic Sci. 2006; 51(2): 351–356.

    Article  PubMed  CAS  Google Scholar 

  26. Parsons TJ, Huel R, Davoren J, Katzmarzyk C, Milos A, Selmanovic A, Smajlovic L, Coble MD, Rizvic A. Application of novel “mini-amplicon” STR multiplexes to high volume casework on degraded skeletal remains. For. Sci. Int. Genet. 2007; 1: 175–179.

    Article  Google Scholar 

  27. Bessetti J. An Introduction to PCR Inhibitors. Profiles in DNA 2007; 10(1).

    Google Scholar 

  28. Opel K, Chung D, McCord BR. A Study of PCR Inhibition Mechanisms Using Real Time PCR. J. Forensic Sci. 2010; 55(1): 25–33.

    Article  PubMed  CAS  Google Scholar 

  29. Ensenberger MG, Thompson J, Hill B, Homick K, Kearney V, Mayntz-Press KA, Mazur P, McGuckian A, Myers J, Raley K, Raley SG, Rothove R, Wilson J, Wieczorek D, Fulmer PM, Storts DR, Krenke BE. Developmental validation of the PowerPlex 16 HS System: an improved 16-locus fluorescent STR multiplex. Forensic Sci. Int. Genet. 2010; 4(4): 257–64.

    Article  PubMed  CAS  Google Scholar 

  30. Gefrides L, Donley M, MacMillan K, Klein C, Kahn R. Identifiler plus: validation for forensic casework and implications for quantification of inhibited samples, 2010. http://www.promega.com/geneticidproc/ussymp21proc/abstracts/poster_93.pdf.

  31. Sinha SK, Budowle B, Arcot SS, Richey SL, Chakrabor R, Jones MD, Wojtkiewicz PW, Schoenbauer DA, Gross AM, Sinha SK, Shewale JG. Development and validation of a multiplexed Y-chromosome STR genotyping system, Y-PLEX 6, for forensic casework. J Forensic Sci. 2003; 48: 93–103.

    PubMed  CAS  Google Scholar 

  32. Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL, Hennessy LK. Development and Validation of the AmpFℓSTR® Yfiler™ PCR Amplification Kit: A Male Specific, Single Amplification 17 Y-STR Multiplex System. J. Forensic Sci. 2006; 51: 64–75.

    Article  PubMed  CAS  Google Scholar 

  33. Krenke B, Viculis L, Richard ML, Prinz M, Milne SC, Ladd C, Gross AM, Gornalld T, Frappier JR, Eisenberg AJ, Barna C, Aranda XG, Adamowicz MS, Budowle B. Validation of a male-specific, 12-locus fluorescent short tandem repeat (STR) multiplex. Forensic Sci. Int. 2005; 148: 1–14.

    Article  PubMed  CAS  Google Scholar 

  34. Krenke B, Nassif N, Sprecher C, Knox S, Schwandt M, Storts DR. Developmental Validation of a Real-Time PCR Assay for the Simultaneous Quantification of Total Human and Male DNA. For. Sci. Int. Genet. 2008; 3: 14–28.

    Article  CAS  Google Scholar 

  35. Barbisin M, Fang R, O’Shea CE, Calandro LM, Furtado MR, Shewale JG. Developmental validation of the Quantifiler Duo DNA Quan-tification kit for simultaneous quantification of total human and human male DNA and detection of PCR inhibitors in biological samples. J Forensic Sci. 2009; 54(2): 305–319.

    Article  PubMed  CAS  Google Scholar 

  36. Forster L, Thomson J, Kutranov S, Direct comparison of post-28-cycle PCR purification and modified capillary electrophoresis methods with the 34-cycle “low copy number” (LCN) method for analysis of trace forensic DNA samples, Forensic Sci. Int. Genet. 2008; 2: 318–328.

    Article  PubMed  Google Scholar 

  37. 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. 2000; 112: 17–40.

    Article  PubMed  CAS  Google Scholar 

  38. Caragine T, Mikulasovich R, Tamariz J, Bajda E, Sebestyen J, Baum H, Prinz M. Validation of Testing and Interpretation Protocols for Low Template DNA amples Using AmpFlSTR® Identifiler®, Croat Med. J. 2009; 50: 250–267.

    Article  PubMed  CAS  Google Scholar 

  39. Budowle B, Eisenberg AJ, van Daal A. Validity of Low Copy Number Typing and Applications to Forensic Science, Croat. Med. J. 2009; 50: 207–217.

    Article  PubMed  CAS  Google Scholar 

  40. SWGDAM Interpretation Guidelines for Autosomal STR Typing by Forensic DNA Testing Laboratories, Scientific Working Group on DNA analysis methods, 2010.

    Google Scholar 

  41. Elliot K, Hill DS, Lambert C, Burroughes TR, Gill P. Use of laser microdissection greatly improves the recovery of DNA from sperm on microscope slides. Forensic Sci Int. 2003; 137: 28–36.

    Article  Google Scholar 

  42. Anslinger K, Bayer B, Mack B, Eisenmenger W. Sex-specific fluorescent labelling of cells for laser microdissection and DNA profiling, Int. J. Legal Med, 2007; 121(1): 54–56.

    Article  PubMed  CAS  Google Scholar 

  43. Bauer M, Patzelt D. Simultaneous RNA and DNA isolation from blood and semen stains, Forensic Sci. Int. 2003; 136: 76–78.

    Article  PubMed  CAS  Google Scholar 

  44. Alvarez M, Juusola J, Ballantyne J. An mRNA and DNA co-isolation method for forensic casework samples, Anal. Biochem. 2004; 335: 289–298.

    Article  PubMed  CAS  Google Scholar 

  45. Frumkin D, Wasserstrom A, Budowle B. Davidson A. DNA methylation-based forensic tissue identification, Forensic Sci. Int. Genet. 2011. in press.

    Google Scholar 

  46. Liu F, van Duijn K, Vingerling JR, Hofman A, Uitterlinden AG, Janssens AC, Kayser M. Eye color and the prediction of complex phenotypes from genotypes. Curr. Biol. 2009; 19: R192–193.

    Article  PubMed  CAS  Google Scholar 

  47. Valenzuela RK, Henderson MS, Walsh MH, Garrison NA, Kelch JT, Cohen-Barak O, Erickson DT, John Meaney F, Bruce Walsh J, Cheng KC, Ito S, Wakamatsu K, Frudakis T, Thomas M, Brilliant MH. Predicting phenotype from genotype: Normal pigmentation. J. Forensic Sci. 2010; 55(2): 315–322.

    Google Scholar 

Website

Download references

Acknowledgments

The authors would like to recognize the technical assistance of Dee Mills, George Duncan, Carla Vecchiotti, and Chris Comar in support of this document. This project was supported through NIJ grant # 2010-DN-BX-K204. Points of view in the document are those of the authors and do not necessarily represent the official view of the US Department of Justice.

Author information

Authors and Affiliations

  1. Department of Chemistry and Biochemistry, Florida International University, Miami, FL, USA

    Robyn Thompson & Bruce McCord

  2. Laboratory of Forensic Genetics, Department of Anatomy, Histology, Forensic Medicine and Locomotor System, University of Rome “Sapienza”, Rome, Italy

    Silvia Zoppis

Authors
  1. Robyn Thompson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Silvia Zoppis
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Bruce McCord
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bruce McCord .

Editor information

Editors and Affiliations

  1. Ciencias Forenses, Servicio de Biología, Instituto Nacional de Toxicología y, C/ José Echegaray 4, Las Rozas, 28232, Madrid, Spain

    Antonio Alonso

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer Science+Business Media, LLC

About this protocol

Cite this protocol

Thompson, R., Zoppis, S., McCord, B. (2012). An Overview of DNA Typing Methods for Human Identification: Past, Present, and Future. In: Alonso, A. (eds) DNA Electrophoresis Protocols for Forensic Genetics. Methods in Molecular Biology, vol 830. Humana Press. https://doi.org/10.1007/978-1-61779-461-2_1

Download citation

  • DOI: https://doi.org/10.1007/978-1-61779-461-2_1

  • Published:

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-460-5

  • Online ISBN: 978-1-61779-461-2

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics

Search

Navigation