Population data from Chile using PowerPlex-16

Abstract

Short tandem repeat (STR) loci are routinely used for paternity and forensic identity testing. Furthermore, STR loci are useful components of national DNA databanks, such as those in the United Kingdom and the United States. The typing of STR loci is facilitated by the ability to amplify several loci simultaneously in a multiplex polymerase chain reaction (PCR). The 16 STR loci D3S1358, TH011, D21S11, D18S51, PentaE, D5S818, D13S317, D7S820, D16S539, CSF1PO, PentaD, vWA, D8S1179, TPOX, FGA and the locus amelogenin can be amplified simultaneously using the PowerPlex16 kit (Promega, Madison, WI, USA). This paper presents allele distribution data in the general Chilean population. The data demonstrate that these loci can be useful for providing estimates of the frequency of a DNA profile in forensic identity testing and that a multiple locus profile is extremely rare in all the population. Whole blood was obtained in EDTA vacutainer tubes by venipuncture from unrelated individuals (N = 323) residing in Chile. Extracted DNA samples were amplified at the 16 loci using the PowerPlex16 kit (Promega). Samples were analyzed using the ABI Prismk 310 Genetic Analyzer (PE Biosystems, Foster City, CA) according to the manufacturer’s recommended protocol. All 15 loci are highly polymorphic in the Chilean sample population with the locus TPOX (67.3%) having the lowest observed heterozygosity, and the locus PentaE (92.9%) displaying the highest heterozygosity. The most discriminating loci were PentaE (PD= 0.983) and FGA (PD= 0.966). The combined probability of exclusion for the 15 STR loci is 0.99999961. There was little evidence for departures from Hardy–Weinberg expectations (HWE) in this sample population. Based on the exact test, the locus that departed significantly from HWE was D16S539 ( p = 0.002). After employing the Bonferroni correction for the number of loci analyzed, this observation is not likely to