Forensic identification of an individual in complex DNA mixtures

Abstract

The identification of a suspect in a complex DNA mixture typed with standard short tandem repeat (STR) kits has proved difficult. In the current study we present the theoretical framework of a method aimed to resolve this problem in forensic cases. The method suggests genotyping a specially designed panel of 1000–3000 single nucleotide polymorphisms (SNPs), each with a relatively low (<0.1) minor allele frequency (MAF). The rationale of this method is that any individual will carry a specific set of dozens of rare alleles and the complex DNA mixture will carry this particular set only if the one individual is represented in the DNA mixture. The efficiency of the method is evaluated by estimating the probability that a random man will not be excluded (RMNE) from the mixture. When this probability, P(RMNE), is low, one can conclude that the suspect's DNA is present in the DNA mixture. Essentially, a P(RMNE) < 10 −9 is considered as proof, whereas a P(RMNE) < 10 −6 is considered strong evidence. For completeness, we also analyzed the method using the likelihood ratio (LR) approach. We have analyzed the method for a variety of conditions and found that generally the method will provide highly significant results even for complex mixtures combining up to 10 individuals. The method performs well even when close relatives (one or two brothers) are present in the complex DNA mixture and when contributors or suspects come from different populations. We have also found that the method can accurately identify the number of contributors to the mixture, something that in some instances has significant forensic value on its own.