Forensic SNP Genotyping with SNaPshot: Development of a Novel In-house SBE Multiplex SNP Assay

J Forensic Sci. 2018 Nov;63(6):1824-1829. doi: 10.1111/1556-4029.13783. Epub 2018 Apr 10.


This study introduces a newly developed in-house SNaPshot single-base extension (SBE) multiplex assay for forensic single nucleotide polymorphism (SNP) genotyping of fresh and degraded samples. The assay was validated with fresh blood samples from four different populations. In addition, altogether 24 samples from skeletal remains were analyzed with the multiplex. Full SNP profiles could be obtained from 14 specimens, while ten remains showed partial SNP profiles. Minor allele frequencies (MAF) of bone samples and different populations were compared and used for association of skeletal remains with a certain population. The results reveal that the SNPs of the bone samples are genetically close to the Pathan population. The findings show that the new multiplex system can be utilized for SNP genotyping of degraded and forensic relevant skeletal material, enabling to provide additional investigative leads in criminal cases.

Keywords: forensic genetics; forensic genotyping; forensic science; multiplex development; population genetics; single nucleotide polymorphism; single-base extension; skeletal remains.

MeSH terms

  • Bone and Bones / chemistry*
  • DNA Degradation, Necrotic
  • DNA Fingerprinting
  • Gene Frequency
  • Genotype*
  • Genotyping Techniques / instrumentation*
  • Humans
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*