Skip to main content

Principles and Recent Advances in Human DNA Fingerprinting

  • Chapter
DNA Fingerprinting: Approaches and Applications

Summary

Since 1985, DNA typing systems have played an increasingly important role in many aspects of human genetics, most notably in forensic and legal medicine. This article reviews the development of multilocus and single locus minisatellite DNA probes, and more recently the use of PCR to amplify hypervariable DNA loci, as well as discussing the biological properties of the unstable regions of DNA which form the basis of almost all DNA fingerprinting systems.

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

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight 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

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Ali, S., Muller, C. R. and Epplen, J. T. (1986) DNA finger printing by oligonucleotide probes specific for simple repeats. Hum. Genet. 74: 239–243.

    Article  Google Scholar 

  • Armour, J. A. L., Patel, I., Thein, S. L., Fey, M. F. and Jeffreys, A. J. (1989a) Analysis of somatic mutations at human minisatellite loci in tumours and cell lines. Genomics 4: 328–334.

    Article  Google Scholar 

  • Armour, J. A. L., Wong, Z., Wilson, V., Royle, N. J. and Jeffreys, A. J. (1989b) Sequences flanking the repeat arrays of human minisatellites: association with tandem and dispersed repeat elements. Nucleic Acids Res. 17: 4925–4935.

    Article  Google Scholar 

  • Armour, J. A. L., Povey, S., Jeremiah, S. and Jeffreys, A. J. (1990) Systematic cloning of human minisatellites from ordered array charomid libraries. Genomics 8: in apress.

    Google Scholar 

  • Balazs, I., Baird, M., Clyne, M. and Meade, E. (1989) Human population genetic studies of five hypervariable DNA loci. Am. J. Hum. Genet. 44: 182–190.

    Google Scholar 

  • Boerwinkle, E., Xiong, W., Fourest, E. and Chan, L. (1989) Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3’ hypervariable region. Proc. Nat. Acad. Sci. USA 86: 212–216.

    Article  Google Scholar 

  • Brookfield, J. F. Y. (1989) Analysis of DNA fingerprinting data in cases of disputed paternity. IMA J. of Mathematics Applied in Medicine and Biology 6: 111–131.

    Article  Google Scholar 

  • Collick, A. and Jeffreys, A. J. (1990) Detection of a novel minisatellite-specific DNA-binding protein. Nucleic Acids Res. 18: 625–629.

    Article  Google Scholar 

  • Evett, I. W., Werrett, D. J. and Buckleton, J. S. (1989a) Paternity calculations from DNA multilocus profiles. J. Forensic Sci. Soc. 29: 249–254.

    Article  Google Scholar 

  • Evett, I. W., Werrett, D. J. and Smith, A. F. M. (1989b) Probabilistic analysis of DNA profiles. J. Forensic Sci. Soc. 29: 191–196.

    Article  Google Scholar 

  • Flint, J., Boyce, A. J., Martinson, J. J. and Clegg, J. B. (1989) Population bottlenecks in Polynesia revealed by minisatellites. Hum. Genet. 83: 257–263.

    Article  Google Scholar 

  • Fowler, S. J., Gill, P., Werrett, D. J. and Higgs, D. R. (1988) Individual specific DNA fingerprints from a hypervariable region probe: alpha-globin 3’ HVR. Hum. Genet. 79: 142–146.

    Article  Google Scholar 

  • Gill, P. and Werrett, D. J. (1987) Exclusion of a man charged with murder by DNA fingerprinting. Forensic Science International 35: 145–148.

    Article  Google Scholar 

  • Greenberg, B. D., Newbold, J. E. and Sugino, A. (1983) Intraspecific nucleotide-sequence variability surrounding the origin of replication in human mitochondrial DNA. Gene 21: 33–49.

    Article  Google Scholar 

  • Hagelberg, E., Sykes, B. and Hedges, R. (1990) Ancient bone DNA amplified. Nature 342: 485.

    Article  Google Scholar 

  • Higuchi, R. and Blake, E. T. (1989) Applications of the polymerase chain reaction in forensic science. In Banbury Report 32: DNA Technology and Forensic Science (eds. J. Ballantyne, G. Sensabaugh and J. Witkowski; Cold Spring Harbor Laboratory Press, 1989 ) pp. 265–281.

    Google Scholar 

  • Hill, W. G. (1986) DNA fingerprint analysis in immigration test-cases. Nature 322: 290–291.

    Article  Google Scholar 

  • Home Office (1988) DNA profiling in immigration casework. Report of a pilot trial by the Home Office and Foreign and Commonwealth Office. ( Home Office, London).

    Google Scholar 

  • Horn, G. T., Richards, B. and Klinger, K. W. (1989) Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction. Nucleic Acids Res. 17: 2140.

    Article  Google Scholar 

  • Jeffreys, A. J., Brookfield, J. F. Y. and Semeonoff, R. (1985a) Positive identification of an immigration test-case using human DNA fingerprints. Nature 317: 818–819.

    Article  Google Scholar 

  • Jeffreys, A. J., Wilson, V. and Thein, S. L. (1985b) Hypervariable `minisatellite’ regions in human DNA. Nature 314: 67–73.

    Article  Google Scholar 

  • Jeffreys, A. J., Wilson, V. and Thein, S. L. (1985c) Individual-specific `fingerprints’ of human DNA. Nature 316: 76–79.

    Article  Google Scholar 

  • Jeffreys, A. J., Wilson, V., Thein, S. L., Weatherall, D. J. and Ponder, B. A. J. (1986) DNA `fingerprints’ and segregation analysis of multiple markers in human pedigrees. Am. J. Hum. Genet. 39: 11–24.

    Google Scholar 

  • Jeffreys, A. J., Wilson, V., Kelly, R., Taylor, B. A. and Bulfield, G. (1987) Mouse DNA `fingerprints’: analysis of chromosome localization and germ-line stability of hypervariable loci in recombinant inbred strains. Nucleic Acids Res. 15: 2823–2836.

    Article  Google Scholar 

  • Jeffreys, A. J., Royle, N. J., Wilson, V. and Wong, Z. (1988a) Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332: 278–281.

    Article  Google Scholar 

  • Jeffreys, A. J., Wilson, V., Neumann, R. and Keyte, J. (1988b) Amplification of human minisatellites by the polymerase chain reaction: towards DNA fingerprinting of single cells. Nucleic Acids Res. 16: 10953–10971.

    Article  Google Scholar 

  • Jeffreys, A. J., Neumann, R. and Wilson, V. (1990) Repeat unit sequence variation in minisatellites: a novel source of DNA polymorphism for studying variation and mutation by single molecule analysis. Cell 60: 473–485.

    Article  Google Scholar 

  • Julier, C., de Gouyon, B., Georges, M., Guenet, J. -L., Nakamura, Y., Avner, P. and Lathrop, G. M. (1990) Minisatellite linkage maps in the mouse by cross-hybridization with human probes containing tandem repeats. Proc. Nat. Acad. Sci. USA 87: 4585–4589.

    Article  Google Scholar 

  • Kelly, R., Bulfield, G., Collick, A., Gibbs, M. and Jeffreys, A. J. (1989) Characterization of a highly unstable mouse minisatellite locus: evidence for somatic mutation during early development. Genomics 5: 844–856.

    Article  Google Scholar 

  • Knowlton, R. G., Brown, V. A., Braman, J. C., Barker, D., Schumm, J. W., Murray, C., Takvorian, T., Ritz, J. and Donnis-Keller, H. (1986) Use of highly polymorphic DNA probes for genotype analysis following bone marrow transplantation. Blood 68: 378–385.

    Google Scholar 

  • Lander, E. S. (1989) DNA fingerprinting on trial. Nature 339: 501–505.

    Article  Google Scholar 

  • Litt, M. and Luty, J. A. (1989) A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44: 397–401.

    Google Scholar 

  • Nakamura, Y., Leppert, M., O’Connell, P., Wolff, R., Holm, T., Culver, M., Martin, C., Fujimoto, E., Hoff, M., Kumlin, E. and White, R. (1987) Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235: 1616–1622.

    Article  Google Scholar 

  • Nakamura, Y., Carlson, M., Krapcho, K., Kanamori, M. and White, R. (1988) New approach for isolation of VNTR markers. Am. J. Hum. Genet. 43: 854–859.

    Google Scholar 

  • Royle, N. J., Clarkson, R. E., Wong, Z. and Jeffreys, A. J. (1988) Clustering of hypervariable minisatellites in the proterminal regions of human autosomes. Genomics 3: 352–360.

    Article  Google Scholar 

  • Saiki, R. K., Bugawan, T. L., Horn, G. T., Mullis, K. B. and Erlich, H. A. (1986) Analysis of enzymatically amplified Ăź-globin and HLA-DQa DNA with allele-specific oligonucleotide probes. Nature 324: 163–166.

    Article  Google Scholar 

  • Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B. and Erlich, H. A. (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487–491.

    Article  Google Scholar 

  • Smith, J. C., Anwar, R., Riley, J., Jenner, D., Markham, A. F. and Jeffreys, A. J. (1990). Highly polymorphic minisatellite sequences: allele frequencies and mutation rates for five locus specific probes in a Caucasian population. J. For. Sci. Soc. 30: 19–32.

    Google Scholar 

  • Swallow, D. M., Gendler, S., Griffith, B., Corney, G., Taylor-Papadimitriou, J. and Bramwell, M. E. (1987) The human tumour-associated epithelium mucins are coded by an expressed hypervariable gene locus PUM. Nature 328: 82–84.

    Article  Google Scholar 

  • Tautz, D. (1989) Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res. 17: 6463–6471.

    Article  Google Scholar 

  • US Congress, Office of Technology Assessment (1990) Genetic witness: forensic uses of DNA tests, OTA-BA-438 ( Washington DC: US Government Printing Office).

    Google Scholar 

  • Vassart, G., Georges, M., Monsieur, R., Brocas, H., Lequarre, A. S. and Christophe, D. (1987) A sequence in M13 phage detects hypervariable minisatellites in human and animal DNA. Science 235: 683–684.

    Article  Google Scholar 

  • Vergnaud, G. (1989) Polymers of random short oligonucleotides detect polymorphic loci in the human genome. Nucleic Acids Res. 17: 7623–7630.

    Article  Google Scholar 

  • Wahls, W. P., Wallace, L. J. and Moore, P. D. (1990) Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells. Cell 60: 95–103.

    Article  Google Scholar 

  • Wambaugh, J. (1989) The Blooding. (William Morrow & Co., Inc., New York, NY). Weber, J. L. (1990) Informativeness of human (dC-dA)„. (dG-dT)„ polymorphisms. Genomics 7: 524–530.

    Google Scholar 

  • Weber, J. L. and May, P. E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388–396.

    Google Scholar 

  • Wolff, R., Nakamura, Y. and White, R. (1988) Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence. Genomics 3: 347–351.

    Article  Google Scholar 

  • Wolff, R. K., Plaetke, R., Jeffreys, A. J. and White, R. (1989) Unequal crossingover between homologous chromsomes is not the major mechanism involved in the generation of new alleles at VNTR loci. Genomics 5: 382–384.

    Article  Google Scholar 

  • Wolff, R., Nakamura, Y. and White, R. (1988) Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence. Genomics 3: 347–351.

    Article  Google Scholar 

  • Wolff, R. K., Plaetke, R., Jeffreys, A. J. and White, R. (1989) Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci. Genomics 5: 382–384.

    Article  Google Scholar 

  • Wong, Z., Wilson, V., Jeffreys, A. J. and Thein, S. L. (1986) Cloning a selected fragment from a human DNA `fingerprint’: isolation of an extremely polymorphic minisatellite. Nucleic Acids Res. 14: 4605–4616.

    Article  Google Scholar 

  • Wong, Z., Wilson, V., Patel, I., Povey, S. and Jeffreys, A. J. (1987). Characterization of a panel of highly variable minisatellites cloned from human DNA. Ann. Hum. Genet. 51: 269–288.

    Article  Google Scholar 

  • Wong, Z., Royle, N. J. and Jeffreys, A. J. (1990) A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16. Genomics 7: 222–234.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1991 Birkhäuser Verlag Basel/Switzerland

About this chapter

Cite this chapter

Jeffreys, A.J. et al. (1991). Principles and Recent Advances in Human DNA Fingerprinting. In: Burke, T., Dolf, G., Jeffreys, A.J., Wolff, R. (eds) DNA Fingerprinting: Approaches and Applications. Experientia Supplementum, vol 58. Birkhäuser Basel. https://doi.org/10.1007/978-3-0348-7312-3_1

Download citation

  • DOI: https://doi.org/10.1007/978-3-0348-7312-3_1

  • Publisher Name: Birkhäuser Basel

  • Print ISBN: 978-3-0348-7314-7

  • Online ISBN: 978-3-0348-7312-3

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics