An avuncular relationship generating a parent-offspring signal in forensic familial DNA searching: a case report

In 2019, a series of vehicle burglaries occurred near the Dead Sea, Israel. DNA profiles obtained from six crime scenes were concordant, but no direct match was found in the national forensic DNA database. A CODIS familial search identified a male candidate as the highest-ranked potential relative. Pairwise kinship analysis based on 15 shared autosomal STR loci yielded the highest likelihood ratio under the parent-offspring (PO) hypothesis (LR = 530,300). However, Y-STR analysis performed in parallel with the familial search excluded a shared paternal lineage. Full mitochondrial genome sequencing subsequently demonstrated an identical haplotype, supporting a shared maternal lineage. Investigative inquiries identified a maternal uncle of the candidate whose reference STR profile fully matched the evidentiary profile.Population-based simulations of 100,000 second-degree relative pairs and 100,000 unrelated pairs showed that 2.05% of simulated second-degree pairs produced LRs equal to or greater than the observed second-degree LR (CODIS HS LR = 5,538), demonstrating that the observed similarity, although within the upper tail, remained within the expected second-degree distribution. In a retrospective expanded-marker analysis, increasing the shared autosomal STR loci from 15 to 20 excluded the PO hypothesis (LR = 0), while close-relationship hypotheses remained supported.This case illustrates how stochastic allele sharing across a limited number of autosomal STR loci can produce overlap between relationship categories and how additional markers can substantially alter relationship inference. Integrating sufficiently informative autosomal markers, lineage-specific markers, statistical evaluation, and investigative information is therefore important when interpreting familial DNA search results.