Chile is a disproportionately long and narrow country defined by the southern Andes and Pacific coastline where a level of genetic sub-structure resulting from distances of several thousand kilometers might be expected across the most distantly separated regions. Although STR databases created for the Chilean Legal Medical Service indicate an absence of sub-structure, such a characteristic requires further exploration when introducing additional forensic markers. Notably, Single Nucleotide Polymorphisms (SNPs) have a much lower mutation rate than STRs and can show more stable distributions of genetic variation if population movement is restricted. In this study we evaluated 451 Chilean urban samples from the North, North-Central, Central, South-Central and South regions of Chile for the 52 SNPs of the SNPforID forensic identification panel to explore the underlying genetic structure of Chilean populations. Results reveal similar genetic distances between groups suggesting a single SNP database for the whole of Chile is appropriate. To further understand the genetic composition of Chilean populations that comprise the bulk of individuals with both European and Native American ancestries, ancestral membership proportions were evaluated and pairwise comparisons to other American populations were made.
Keywords: Allele frequency databases; Chile; Human identification; Population sub-structure; SNPs.
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