Evaluating DNA Mixtures with Contributors from Different Populations Using Probabilistic Genotyping

Genes (Basel). 2022 Dec 23;14(1):40. doi: 10.3390/genes14010040.

Abstract

It is common practice to evaluate DNA profiling evidence with likelihood ratios using allele frequency estimates from a relevant population. When multiple populations may be relevant, a choice has to be made. For two-person mixtures without dropout, it has been reported that conservative estimates can be obtained by using the Person of Interest’s population with a θ value of 3%. More accurate estimates can be obtained by explicitly modelling different populations. One option is to present a minimum likelihood ratio across populations; another is to present a stratified likelihood ratio that incorporates a weighted average of likelihoods across multiple populations. For high template single source profiles, any difference between the methods is immaterial as far as conclusions are concerned. We revisit this issue in the context of potentially low-level and mixed samples where the contributors may originate from different populations and study likelihood ratio behaviour. We first present a method for evaluating DNA profiling evidence using probabilistic genotyping when the contributors may originate from different ethnic groups. In this method, likelihoods are weighted across a prior distribution that assigns sample donors to ethnic groups. The prior distribution can be constrained such that all sample donors are from the same ethnic group, or all permutations can be considered. A simulation study is used to determine the effect of either assumption on the likelihood ratio. The likelihood ratios are also compared to the minimum likelihood ratio across populations. We demonstrate that the common practise of taking a minimum likelihood ratio across populations is not always conservative when FST=0. Population stratification methods may also be non-conservative in some cases. When FST>0 is used in the likelihood ratio calculations, as is recommended, all compared approaches become conservative on average to varying degrees.

Keywords: DNA mixtures; likelihood ratio; population stratification; probabilistic genotyping.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • DNA / genetics
  • DNA Fingerprinting* / methods
  • Genotype
  • Humans
  • Likelihood Functions
  • Microsatellite Repeats*

Substances

  • DNA

Grants and funding

This work was supported in part by grant NIJ 2020-DQ-BX-0022 from the US National Institute of Justice. Points of view in this document are those of the authors and do not necessarily represent the official position or policies of their organizations.