DNA Profiling in Forensic Science


Since 1985, DNA profiling in forensic science has rapidly evolved into an important technique that solves both major and minor crimes. A valuable innovation was the inception of the UK National DNA database that now comprises over 700 000 samples.

Keywords: forensic; STR; mitochondrial DNA; interception; probability

Figure 1.

Schematic diagram of a short tandem repeat genotype. This individual has 10 and 13 repeats respectively on a homologous pair of chromosomes. The genotype is therefore 10,13 (the lower figure comes before the higher). The repeating blocks consist of ATTT in the HUMFES/FPS example.

Figure 2.

HUMTH01 allelic ladder showing seven alleles (from left to right – 5, 6, 7, 8, 9, 9.3, 11) resulting from an Applied Biosystems 377 automated sequencer.

Figure 3.

Second‐generation multiplex used on the national deoxyribonucleic acid (DNA) database of England and Wales.

Figure 4.

Example of a population frequency database. Three ethnic groups are compared for the frequency of HUMFIBRA/FGA. The allelic designation based on the number of repeats is given on the x‐axis; respective frequencies are shown on the y‐axis.

Figure 5.

Schematic representation of a mitochondrial deoxyribonucleic acid molecule illustrating a 400‐base sequence from the control region.

Figure 6.

Typical case comprising a mixture (crime sample) from a male suspect and a female victim. The peaks that correspond to the male and female are shown by arrows. One explanation for the crime sample is that it comprises a suspect–victim mixture. See Figure for explanation of loci in these particular profiles.

Figure 7.

Example of a minisequencing test. A suspect's buccal scrape (a) was compared with a sample extracted from faeces (b). The profiles are different, so the suspect was excluded.


Further Reading

Anderson S, Bankier AT, Barrell BG et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457–465.

Bar W, Brinkmann B, Budowle B et al. (1997) DNA recommendations. Further report of the DNA commission of the ISFH regarding the use of short tandem repeat systems. International Society for Forensic Haemogenetics. International Journal of Legal Medicine 110: 175–176.

Clayton TM, Whitaker JP and Maguire CN (1995) Identification of bodies from the scene of a mass disaster using DNA amplification of short tandem repeat (STR) loci. Forensic Science International 76: 7–15.

Clayton TM, Whitaker JP and Fisher DL (1995) Further validation of a quadruplex STR DNA typing system: a collaborative effort to identify victims of a mass disaster. Forensic Science International 76: 17–25.

Findlay I, Taylor A, Quirke P, Frazier R and Urquhart A (1997) DNA fingerprinting from single cells. Nature 389: 555–556.

Gill P, Ivanov PL, Kimpton C et al. (1994) Identification of the remains of the Romanov family by DNA analysis. Nature Genetics 6: 130–135.

Gill P, Kimpton C, Aliston‐Griner R et al. (1995) Establishing the identity of Anna Anderson Manahan. Nature Genetics 9: 9–10.

Gill P, Urquhart A, Millican E et al. (1995) A new method of STR interpretation using inferential logic – development of a criminal intelligence database. International Journal of Legal Medicine 109: 14–22.

Ivanov PL, Wadhams MJ, Roby RK et al. (1996) Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georji Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nature Genetics 12: 417–420.

Lygo JE, Johnson PE, Holdaway DJ et al. (1994) The validation of short tandem repeat (STR) loci for use in forensic casework. International Journal of Legal Medicine 106: 302–311.

Parsons TJ, Muniec DS, Sullivan K et al. (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nature Genetics 15: 363–368.

Sparkes R, Kimpton C, Watson S et al. (1996) The validation of a 7‐locus multiplex STR test for use in forensic casework. (I) Mixtures, ageing, degradation and species studies. International Journal of Legal Medicine 109: 186–194.

Sparkes R, Kimpton C, Watson S et al. (1996) The validation of a 7‐locus mutliplex STR test for use in forensic casework. (II) Artefacts, casework studies and success rates. International Journal of Legal Medicine 109: 195–204.

Tully G, Sullivan KM, Nixon P, Stones RE and Gill P (1996) Rapid detection of mitochondrial sequence polymorphisms using solid‐phase fluorescent minisequencing. Genomics 34: 107–113.

Whitaker JP, Clayton TM, Urquhart AJ et al. (1995) Short tandem repeat typing of bodies from a mass disaster: high success rate and characteristic amplification patterns in highly degraded samples. Biotechniques 18: 670–677.

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Gill, Peter, Sparkes, Rebecca, and Tully, Gillian(Apr 2001) DNA Profiling in Forensic Science. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001001]