Ancestry and phenotype predictions from touch DNA using massively parallel sequencing

Int J Legal Med. 2021 Jan;135(1):81-89. doi: 10.1007/s00414-020-02398-7. Epub 2020 Aug 19.

Abstract

Direct PCR can be used to successfully generate full STR profiles from DNA present on the surface of objects. STR profiles are only of use in cases where a potential donor profile is available for comparison, and DNA is of sufficient DNA quality and quantity to generate a reliable profile. Often, no donor information is available and only trace DNA is present on items. As a result, alternative techniques are required to generate genetic data that can provide investigative leads. Massively parallel sequencing (MPS) offers the ability to detect trace levels of DNA and improve DNA analysis success from touched items. Here, we present the first application of direct PCR coupled with MPS to generate forensic intelligence SNP data from latent DNA. The panels assessed are (1) the HIrisplex System that targets 24 SNPs to simultaneously predict hair and eye, and (2) the Precision ID Ancestry Panel that targets 165 autosomal SNPs indicative of biogeographic ancestry. For each panel, we analysed 60 touched samples across five individuals and four substrates (glass slide, fuse, zip-lock bag and wire) using Ion AmpliSeq Library Preparation Kit on the automated Ion Chef System and Ion Torrent PGM. We examine the SNP recovery, concordance with reference samples and the genotype reproducibility from different substrates and donors. The results demonstrate the application of this approach for obtaining informative genetic from trace amounts of DNA.

Keywords: Ancestry markers; External visible characteristics; Forensic science; Massively parallel DNA sequencing; STR DNA profiling; Trace DNA.

MeSH terms

  • DNA / genetics*
  • Eye Color / genetics
  • Forensic Genetics / methods*
  • Hair Color / genetics
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Phenotype
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Racial Groups / genetics
  • Sequence Analysis, DNA
  • Touch*

Substances

  • DNA