Abstract
Modern forensic DNA profiles are constructed using microsatellites, short tandem repeats of 2-5 bases. In the absence of genetic data on a crime-specific subpopulation, one tool for evaluating profile evidence is the match probability. The match probability is the conditional probability that a random person would have the profile of interest given that the suspect has it and that these people are different members of the same subpopulation. One issue in evaluating the match probability is population differentiation, which can induce coancestry among subpopulation members. Forensic assessments that ignore coancestry typically overstate the strength of evidence against the suspect. Theory has been developed to account for coancestry; assumptions include a steady-state population and a mutation model in which the allelic state after a mutation event is independent of the prior state. Under these assumptions, the joint allelic probabilities within a subpopulation may be approximated by the moments of a Dirichlet distribution. We investigate the adequacy of this approximation for profiled loci that mutate according to a generalized stepwise model. Simulations suggest that the Dirichlet theory can still overstate the evidence against a suspect with a common microsatellite genotype. However, Dirichlet-based estimators were less biased than the product-rule estimator, which ignores coancestry.
Full Text
The Full Text of this article is available as a PDF (131.3 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Balding D. J., Nichols R. A. DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci Int. 1994 Feb;64(2-3):125–140. doi: 10.1016/0379-0738(94)90222-4. [DOI] [PubMed] [Google Scholar]
- Balding D. J., Nichols R. A. Significant genetic correlations among Caucasians at forensic DNA loci. Heredity (Edinb) 1997 Jun;78(Pt 6):583–589. doi: 10.1038/hdy.1997.97. [DOI] [PubMed] [Google Scholar]
- Brinkmann B., Klintschar M., Neuhuber F., Hühne J., Rolf B. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet. 1998 Jun;62(6):1408–1415. doi: 10.1086/301869. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Di Rienzo A., Peterson A. C., Garza J. C., Valdes A. M., Slatkin M., Freimer N. B. Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A. 1994 Apr 12;91(8):3166–3170. doi: 10.1073/pnas.91.8.3166. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Fu Y. X., Chakraborty R. Simultaneous estimation of all the parameters of a stepwise mutation model. Genetics. 1998 Sep;150(1):487–497. doi: 10.1093/genetics/150.1.487. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
- Harpending H. C., Batzer M. A., Gurven M., Jorde L. B., Rogers A. R., Sherry S. T. Genetic traces of ancient demography. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1961–1967. doi: 10.1073/pnas.95.4.1961. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kruglyak L. Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat Genet. 1999 Jun;22(2):139–144. doi: 10.1038/9642. [DOI] [PubMed] [Google Scholar]
- Lange K. Applications of the Dirichlet distribution to forensic match probabilities. Genetica. 1995;96(1-2):107–117. doi: 10.1007/BF01441156. [DOI] [PubMed] [Google Scholar]
- Levinson G., Gutman G. A. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol. 1987 May;4(3):203–221. doi: 10.1093/oxfordjournals.molbev.a040442. [DOI] [PubMed] [Google Scholar]
- Moran P. A. Wandering distributions and the electrophoretic profile. Theor Popul Biol. 1975 Dec;8(3):318–330. doi: 10.1016/0040-5809(75)90049-0. [DOI] [PubMed] [Google Scholar]
- Ohta T., Kimura M. A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res. 1973 Oct;22(2):201–204. doi: 10.1017/s0016672300012994. [DOI] [PubMed] [Google Scholar]
- Weber J. L., Wong C. Mutation of human short tandem repeats. Hum Mol Genet. 1993 Aug;2(8):1123–1128. doi: 10.1093/hmg/2.8.1123. [DOI] [PubMed] [Google Scholar]
- Wehrhahn C. F. The evolution of selectively similar electrophoretically detectable alleles in finite natural populations. Genetics. 1975 Jun;80(2):375–394. doi: 10.1093/genetics/80.2.375. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Weir B. S. Testing for selective neutrality of electrophoretically detectable protein polymorphisms. Genetics. 1976 Nov;84(3):639–659. doi: 10.1093/genetics/84.3.639. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Weir B. S. The effects of inbreeding on forensic calculations. Annu Rev Genet. 1994;28:597–621. doi: 10.1146/annurev.ge.28.120194.003121. [DOI] [PubMed] [Google Scholar]
