Analysis of allelic drop-out using the Identifiler(®) and PowerPlex(®) 16 forensic STR typing systems.

Abstract

Low-template (LT) DNA profiles continue to present interpretational challenges to the forensic community. Whether the LT contribution comprises the main profile, or whether it is present as the minor component of a mixture, ambiguity arises from the possibility that alleles present in the biological sample may not be detected in the resulting DNA profile. This phenomenon is known as allelic drop-out. This ambiguity complicates both the assessment of the potential number of contributors and estimation of the weight of the DNA evidence for or against specific propositions. One solution to estimating the weight of the evidence is to use a likelihood ratio (LR) that incorporates the probability of allelic drop-out P(DO) estimated for the specific evidence sample under consideration. However, although a vast repository of data exists, few empirical studies to determine allelic drop-out probabilities have been performed to date. Here we characterized patterns of allelic drop-out in single-source samples using both universal and run-specific analytical thresholds. Not surprisingly, we found fewer instances of apparent drop-out when using a lower (run-specific) detection threshold. Also, unsurprisingly, a positive correlation exists between allele drop-out and allele length, even in good quality samples. We used logistic regression to model the fraction of alleles that dropped out of a profile as a function of the average height of the detected peaks. The equation derived from the logistic regression model allowed us to estimate the expected drop-out probability for an evidentiary sample based on the average peak height of the profile. We show that the LRs calculated using the estimated drop-out probabilities were similar to those calculated using the benchmark drop-out probabilities, suggesting that the estimates of the drop-out probability are accurate and useful. This trend holds even when using the data from the PowerPlex(®) 16 typing system to estimate the drop-out probability for an Identifiler(®) profile, and vice versa. Thus we demonstrate that use of a LR that incorporates empirically estimated allelic drop-out probabilities provides a reliable means for extracting additional information from LT forensic DNA profiles.