A method for quantifying differentiation between populations at multi-allelic loci and its implications for investigating identity and paternity (original) (raw)
- 1877 Accesses
- 507 Citations
- 12 Altmetric
- Explore all metrics
An Erratum to this article was published on 09 August 2007
Abstract
A method is proposed for allowing for the effects of population differentiation, and other factors, in forensic inference based on DNA profiles. Much current forensic practice ignores, for example, the effects of coancestry and inappropriate databases and is consequently systematically biased against defendants. Problems with the ‘product rule’ for forensic identification have been highlighted by several authors, but important aspects of the problems are not widely appreciated. This arises in part because the match probability has often been confused with the relative frequency of the profile. Further, the analogous problems in paternity cases have received little attention. The proposed method is derived under general assumptions about the underlying population genetic processes. Probabilities relevant to forensic inference are expressed in terms of a single parameter whose values can be chosen to reflect the specific circumstances. The method is currently used in some UK courts and has important advantages over the ‘Ceiling Principle’ method, which has been criticized on a number of grounds.
Access this article
Subscribe and save
- Starting from 10 chapters or articles per month
- Access and download chapters and articles from more than 300k books and 2,500 journals
- Cancel anytime View plans
Buy Now
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Instant access to the full article PDF.
Similar content being viewed by others
References
- Balding, D.J. & P. Donnelly, 1995. Inference in forensic identification. To appear J. Roy. Statist. Soc. 158.
- Balding, D.J. & R.A. Nichols, 1994. DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci. Inter. 64: 125–140.
Google Scholar - Cavalli-Sforza, L.L. & A. Piazza, 1993. Human genomic diversity in Europe: a summary of recent research and prospects for the future. Eur. J. Hum. Genet. 1: 3–18.
PubMed Google Scholar - Chakraborty, R. & K.K. Kidd, 1991. The utility of DNA typing in forensic work. Science 254: 1735–1739.
PubMed Google Scholar - Cockerham, C.C., 1971. Higher order probability functions of identity of alleles by descent. Genetics 69: 235–246.
PubMed Google Scholar - Crow, J.F. & M. Kimura, 1970. An Introduction to Population Genetics Theory. New York: Harper and Row.
Google Scholar - Devlin, B., N. Risch & K. Roeder, 1993. Statistical evaluation of DNA fingerprinting: a critique of the NRC's report. Science 259: 748, 749, 837.
PubMed Google Scholar - Donnelly, P., 1995. The non-independence of matches at different loci in DNA profiles: quantifying the effect of close relatives on the match probability. (to appear) Heredity.
- Ewens, W.J., 1979. Mathematical Population Genetics. Berlin: Springer-Verlag.
Google Scholar - Geisser, S. & W. Johnson, 1993. Testing independence of fragment lengths within VNTR loci. Am. J. Hum. Genet. 53: 1103–1106.
PubMed Google Scholar - Harding, R.M., 1992. VNTRs in review. Evol. Anthrop. 1: 62–71.
Google Scholar - Jeffreys, A.J., N.J. Royale, V. Wilson & Z. Wong, 1988. Spontaneous mutation rates to new alleles at tandem repetitive hypervariable loci in human DNA. Nature 332: 278–281.
PubMed Google Scholar - Jeffreys, A.J., K. Tamaki, A. MacLeod, D.G. Monckton, D.L. Neil & J.A.L. Armour, 1994. Complex gene conversion events in germline mutation at human minisatellites. Nature Genetics 6: 136–145.
PubMed Google Scholar - Krane, D.E., R.W. Allen, S.A. Sawyer, D.A. Petrov & D.L. Hartl, 1992. Genetic differences at four DNA typing loci in Finnish, Italian and mixed Caucasian populations. Proc. Nat. Acad. Sci. USA 89: 10583–10587.
PubMed Google Scholar - Lempert, R., 1991. Some caveats concerning DNA as criminal identification evidence: with thanks to the Reverend Bayes. Cardozo Law Rev. 13: 303–341.
Google Scholar - Lewontin, R.C. & D.L. Hartl, 1991. Population genetics in forensic DNA typing. Science 254: 1745–1750.
PubMed Google Scholar - Lindley, D.V., 1990. The present position in Bayesian statistics. Statist. Sci. 5: 44–89.
Google Scholar - Morton, N.E., 1992. Genetic structure of forensic populations. Proc. Nat. Acad. Sci. USA 89: 2556–2560.
PubMed Google Scholar - Morton, N.E., 1993a. DNA in court. Eur. J. Hum. Genet. 1: 172–178.
PubMed Google Scholar - Morton, N.E., 1993b. Kinship bioassay on hypervariable loci in blacks and caucasians. Proc. Nat. Acad. Sci. USA 90: 1892–1896.
PubMed Google Scholar - Nichols, R.A. & D.J. Balding, 1991. Effects of population structure on DNA fingerprint analysis in forensic science. Heredity 66: 297–302.
PubMed Google Scholar - Robertson, B. & T. Vignaux, 1992. Why the NRC report on DNA is wrong. New Law J.: 1619–1621.
- Roeder, K., 1994. DNA fingerprinting: a review of the controversy. Statist. Sci. 9: 222–278.
Google Scholar - Wall, W.J., R. Williamson, M. Petrou, D. Papaioannou & B.H. Parkin, 1993. Variation of short tandem repeats within and between populations. Hum. Molec. Genet. 2: 1023–1029.
PubMed Google Scholar - Waye, J.S. & B. Eng, 1994. Allelic stability of a VNTR locus 3′αHVR: Linkage disequilibrium with the common α-thalassaemia-1 deletion of South-East Asia (-SEA/). Hum. Heredity 44: 61–67.
PubMed Google Scholar - Weir, B.S., 1993a. Forensic Population Genetics and the National Research Council (NRC). Am. J. Hum. Genet. 52: 437–440.
PubMed Google Scholar - Weir, B.S., 1993b. Independence tests for VNTR alleles defined as quantile bins. Am. J. Hum. Genet. 53: 1107–1113.
PubMed Google Scholar - Yasuda, N., 1968. An extension of Wahlund's principle to evaluate mating type frequency. Am. J. Hum. Genet. 20: 1–23.
PubMed Google Scholar
Author information
Authors and Affiliations
- School of Mathematical Sciences and School of Biological Sciences, Queen Mary & Westfield College, University of London, Mile End Road, E1 4NS, London, UK
David J. Balding & Richard A. Nichols
Authors
- David J. Balding
- Richard A. Nichols
Additional information
Editor's comments
The authors' work offers a sound approach to accommodating the effects of population structure, based on use of Wright's_F_ ST . Their equations 1 and 2 are very convenient, and are good approximations to the exact results given by Weir (1994). As they point out, good estimates of_F_ ST are needed. The comments about the ‘generally mixed’ results of independence tests may be met, in part, by the paper of Maiste and Weir in this volume. The authors cite Krane_et al._ (1992) but had not seen the subsequent rebuttal by Budowle_et al._ (1994). The work of Wall_et al._ (1993) contained errors, as noted in Greenhalgh_et al._ (1994).
An erratum to this article is available at http://dx.doi.org/10.1007/s10709-007-9181-2.
Rights and permissions
About this article
Cite this article
Balding, D.J., Nichols, R.A. A method for quantifying differentiation between populations at multi-allelic loci and its implications for investigating identity and paternity.Genetica 96, 3–12 (1995). https://doi.org/10.1007/BF01441146
- Received: 16 May 1994
- Accepted: 26 July 1994
- Issue date: June 1995
- DOI: https://doi.org/10.1007/BF01441146