Forensic identification using a multiplex assay of 47 SNPs

J Forensic Sci. 2012 Nov;57(6):1448-56. doi: 10.1111/j.1556-4029.2012.02154.x. Epub 2012 Apr 26.

Abstract

As a powerful alternative to short tandem repeat (STR) profiling, we have developed a novel panel of 47 single nucleotide polymorphisms (SNPs) for DNA profiling and ABO genotyping. We selected 42 of the 47 SNPs from a panel of 86 markers that were previously validated as universal individual identification markers and identified five additional SNPs including one gender marker and four ABO loci. Match probability of the 42 validated SNPs was found to be 9.5 × 10(-18) in Han Chinese. SNP analysis correctly assessed a panel of historical cases, including both paternity identifications in trios and individual identifications. In addition, while STR profiling of degraded DNA provided information for 11 loci of 16 potential markers with low peak intensities, SNPstream(®) genotyping was sufficient to identify all 47 SNPs. In summary, SNP analysis is equally effective as STR profiling, but appears more suited for individual identification than STR profiling in cases where DNA may be degraded.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics
  • Amelogenin / genetics
  • China
  • DNA Degradation, Necrotic
  • DNA Fingerprinting / methods*
  • Ethnicity / genetics
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Microsatellite Repeats
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA

Substances

  • ABO Blood-Group System
  • Amelogenin