A mini-multiplex SNaPshot assay for the triage of degraded human DNA. (May 2018)

• Record Type: Journal Article
• Authors: Bardan, Felicia; Higgins, Denice; Austin, Jeremy J.
• Is Part Of: Forensic science international. Volume 34(2018)
• Page Start: 62
• Page End: 70
• Publication Date: 2018-05
• Subjects: Degraded DNA -- Screening tool -- SNPs -- Biogeographic ancestry -- Sex prediction -- Lineage markers; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2018.02.006
• Languages: English
• ISSNs: 1872-4973

Abstract

Highlights: A single SNP multiplex (Miniplex) combining autosomal, Y chromosome and mitochondrial DNA markers was developed and optimised. The Miniplex provides broad biological profile for human samples, including mtDNA, Y chromosome, sex, biogeographic ancestry and eye colour. The Miniplex produced a biological profile consistent with declared metadata from diverse reference samples. Application to degraded human samples with low template and degraded DNA indicates good sensitivity. The Miniplex is a valuable tool to quickly and inexpensively triage unidentified human remains. Abstract: Short Tandem Repeat (STR) genotyping is currently the primary DNA-based method for human identification, however it can have limited success when applied to degraded human remains. Massively parallel sequencing (MPS) provides new opportunities to obtain genetic data for hundreds of loci in a single assay with higher success from degraded samples. However, due to the extra requirement for specialised equipment, expertise and resources, routine use of MPS may not be feasible or necessary for many forensic cases. Here we describe the development of a mini-multiplex SNaPshot screening tool (Miniplex) for human samples which allows the qualitative comparison of short mitochondrial and nuclear DNA targets, as well as the interrogation of biogeographic ancestry, lineage, and phenotype single nucleotide polymorphisms (SNPs). This tool is useful to triage samples based on sample quality prior to downstream identification workflows and provides broad biological profile data for intelligence purposes.