01-07-2016 | Original Article
Empirical testing of a 23-AIMs panel of SNPs for ancestry evaluations in four major US populations
Published in: International Journal of Legal Medicine | Issue 4/2016
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Ancestry informative markers (AIMs) can be used to determine population
affiliation of the donors of forensic samples. In order to examine ancestry
evaluations of the four major populations in the USA, 23 highly informative AIMs
were identified from the International HapMap project. However, the efficacy of
these 23 AIMs could not be fully evaluated in silico. In this study, these 23 SNPs
were multiplexed to test their actual performance in ancestry evaluations. Genotype
data were obtained from 189 individuals collected from four American populations.
One SNP (rs12149261) on chromosome 16 was removed from this panel because it was
duplicated on chromosome 1. The resultant 22-AIMs panel was able to empirically
resolve the four major populations as in the in silico study. Eight individuals were
assigned to a different group than indicated on their samples. The assignments of
the 22 AIMs for these samples were consistent with AIMs results from the
ForenSeqTM panel. No departures from Hardy-Weinberg
equilibrium (HWE) and linkage disequilibrium (LD) were detected for all 22 SNPs in
four US populations (after removing the eight problematic samples). The principal
component analysis (PCA) results indicated that 181 individuals from these
populations were assigned to the expected groups. These 22 SNPs can contribute to
the candidate AIMs pool for potential forensic identification purposes in major US
populations.