Izvorni znanstveni članak
https://doi.org/10.3325/cmj.2013.54.225
Allele frequencies for 40 autosomal SNP loci typed for US population samples using electrospray ionization mass spectrometry
Kevin M. Kiesler
; Biomolecular Measurement Division, National Institute of Standards and Technology, Gaithersburg, MD, USA
Peter M. Vallone
; Biomolecular Measurement Division, National Institute of Standards and Technology, Gaithersburg, MD, USA
Sažetak
Aim 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.
Conclusion 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.
Ključne riječi
Hrčak ID:
104759
URI
Datum izdavanja:
15.6.2013.
Posjeta: 1.015 *