title: Allele frequencies for 40 autosomal SNP loci typed for US population samples using electrospray ionization mass spectrometry.
abstract: OBJECTIVE
  To type a set of 194 US African American, Caucasian, and Hispanic samples (self-declared ancestry) for 40 autosomal single nucleotide polymorphism (SNP) markers intended for human identification purposes.
  
  
  METHODS
  Genotyping was performed on an automated commercial electrospray ionization time-of-flight mass spectrometer, the PLEX-ID. The 40 SNP markers were amplified in eight unique 5plex PCRs, desalted, and resolved based on amplicon mass. For each of the three US sample groups statistical analyses were performed on the resulting genotypes.
  
  
  RESULTS
  The assay was found to be robust and capable of genotyping the 40 SNP markers consuming approximately 4 nanograms of template per sample. The combined random match probabilities for the 40 SNP assay ranged from 10-16 to 10-21.
  
  
  CONCLUSIONS
  The multiplex PLEX-ID SNP-40 assay is the first fully automated genotyping method capable of typing a panel of 40 forensically relevant autosomal SNP markers on a mass spectrometry platform. The data produced provided the first allele frequencies estimates for these 40 SNPs in a National Institute of Standards and Technology US population sample set. No population bias was detected although one locus deviated from its expected level of heterozygosity.
authors.affiliation: Biomolecular Measurement Division, National Institute of Standards and Technology, Gaithersburg, MD, 20899-8314, USA.
authors.forename: Kevin M
authors.initials: KM
authors.lastname: Kiesler
authors.forename: Peter M
authors.initials: PM
authors.lastname: Vallone
mesh_terms: D018732:Forensic Anthropology; D005787:Gene Frequency; D005819:Genetic Markers; D005828:Genetics, Population; D060005:Genotyping Techniques; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups; D021241:Spectrometry, Mass, Electrospray Ionization; D014481:United States
chemical_list: D005819:Genetic Markers