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Encoded evidence: DNA in forensic analysis

Nature Reviews Genetics volume 5, pages 739–751 (2004)Cite this article

A Correction to this article was published on 01 March 2005

Key Points

  • DNA varies between and within species, and so it can be used in forensic work when biological material is associated with a crime or other legal case.

  • Forensic DNA analysis began in 1985 with the development of DNA fingerprinting; most analysis is now carried out with PCR multiplexes of 10–15 autosomal STRs that give a high degree of certainty in individual identification.

  • Many circumstances, including mixtures of DNA from more than one donor, can give rise to anomalous profiles, but these can usually be resolved.

  • Semi-automation of DNA profiling allows the construction of large databases of profiles from suspects, offenders and crime-scene samples; the rules for creating and maintaining these differ from country to country.

  • Analysis of autosomal SNPs, Y chromosome haplotypes and mitochondrial DNA sequence variation are also useful in specific applications.

  • DNA profiling can provide some information about the population of origin of a sample, although direct prediction of phenotypic features is more problematic.

  • The identification of victims of wars, disasters and accidents are greatly facilitated by sensitive DNA profiling methods.

  • Analysis of the DNA of animals, plants and micro-organisms associated with legal cases can provide valuable evidence.

Abstract

Sherlock Holmes said “it has long been an axiom of mine that the little things are infinitely the most important”, but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.

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Figure 1: Sources of human genetic variation used in forensic analysis.
Figure 2: Electropherograms illustrating autosomal STR profiles.

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Acknowledgements

We thank Alec Jeffreys, Chris Tyler-Smith and four anonymous reviewers for helpful comments on the manuscript. We apologize to colleagues whose work we were unable to cite owing to space restrictions. M.A.J. is supported by a Wellcome Trust Senior Fellowship in Basic Biomedical Science.

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Authors and Affiliations

  1. Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, United Kingdom

    Mark A. Jobling

  2. Forensic Science Service, Trident Court, 2920 Solihull Parkway, Birmingham Business Park, Birmingham, B37 7YN, United Kingdom

    Peter Gill

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DATABASES

STRBase

Entrez

MC1R

OMIM

Long QT syndrome

FURTHER INFORMATION

UK Forensic Science Service

Innocence Project

International Organization for Standardization

Glossary

DNA FINGERPRINTING

Generation of a pattern of bands, by Southern blotting and hybridization with a multilocus probe, which is highly individual-specific.

FORENSIC GENETICS

The application of genetics for the resolution of legal cases.

PATERNITY TESTING

Determining whether or not a particular man is the father of a child, using genetic analysis. This generally uses similar autosomal markers to individual identification work.

MATCH PROBABILITY

The chance of two unrelated people sharing a DNA profile.

MINISATELLITES

Loci made up of a number (∼10–1,000) of tandemly repeated sequences, each typically 10–100 bp in length. Usually GC-rich and often hypervariable.

DIFFERENTIAL LYSIS

A method to enrich for sperm DNA in a mixture of sperm and epithelial cells by preferentially lysing the latter using detergent and protease, so that sperm nuclei can be recovered by centrifugation.

ISO17025

A global standard, established by the International Organization for Standardization, for the technical competence of calibration and testing laboratories (see Online links box).

HLA-DQA1 GENE

A polymorphic gene within the MHC class II region on chromosome 6, encoding a human leukocyte antigen cell-surface protein.

SHORT TANDEM REPEAT

A DNA sequence containing a variable number (typically ≤50) of tandemly repeated short (2–6 bp) sequences, such as (GATA)n; forensic STRs are usually tetranucleotide repeats, which show little PCR stutter.

POPULATION STRUCTURE

The absence of random mating within a population, leading to allele frequency differences among subpopulations.

SIMPLE STRS

Short tandem repeat loci composed of uninterrupted runs of a single repeat type.

COMPLEX STRS

Short tandem repeat loci containing more than one run of repeats that can be of one or more repeat type.

ALLELIC LADDER

An accurate marker used to identify alleles at a particular STR, generated by PCR amplification of a series of sequenced alleles from that STR.

ELECTROPHEROGRAM

The graphical output of electrophoresis devices in STR and sequencing analysis, showing fluorescence intensity as a function of molecular weight; peak at a particular wavelength (colour) corresponds to a specifically labelled molecule of a particular size.

HETEROZYGOTE BALANCE

The proportion of the two alleles of a heterozygote, expressed as the area of the smaller peak divided by the area of the larger peak in an electropherogram.

PCR STUTTER

A PCR artefact in which, as well as a band of the expected size, an additional band is seen which is typically one repeat unit smaller, resulting from slippage synthesis errors by the PCRpolymerase

DROP-IN

Addition of (typically) one or two alleles to a DNA profile, owing to contamination.

HAPLOTYPE

The combination of allelic states of a set of polymorphic markers lying on the same DNA molecule, such as the Y chromosome or mtDNA

BAYESIAN

Statistical method, based on Bayes' theorem, that allows inferences to be drawn from both the data themselves and any prior information.

CONTROL REGION

Part of mitochondrial DNA that is non-coding and therefore more able to accumulate variation than the rest of the molecule.

EFFECTIVE POPULATION SIZE

The size 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.

ADMIXTURE

The formation of a hybrid population through the mixing of two ancestral populations.

LINKAGE DISEQUILIBRIUM MAPPING

Analysing single nucleotide polymorphism alleles in population-based studies to identify loci that are associated with a particular disease or phenotype.

ANCESTRY INFORMATIVE MARKERS

Markers showing marked allele frequency differences between ancestral populations, useful for determining the probable ancestry of an individual.

MELANOCYTE

The specialized cell type, lying at the boundary between the dermis and epidermis, in which the pigment melanin is synthesized.

RANDOM AMPLIFIED POLYMORPHIC DNA

Polymorphic markers generated by using short (8–12 bases long) primers to amplify random fragments of DNA.

MULTIPLE DISPLACEMENT AMPLIFICATION

A method for whole-genome amplification using a highly processive polymerase from bacteriophage φ29 and random primers to synthesize long molecules from the template.

DROP-OUT

Absence of one or more alleles in a DNA profile, owing to stochastic failure of PCR amplification when the number of template molecules is small.

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Jobling, M., Gill, P. Encoded evidence: DNA in forensic analysis. Nat Rev Genet 5, 739–751 (2004). https://doi.org/10.1038/nrg1455

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