Abstract
Short tandem repeat (STR) loci have been successfully employed for forensic genetic, paternity and anthropological analyses in the admixed and Amerindian populations of Panamanian for several years. Nevertheless, reports indicate that the use of STRs might be limited in cases involving degraded DNA samples due to their PCR amplicon size and in paternity because of their relatively high mutation rates. Therefore, as a complement to STRs, markers with higher PCR efficiency, such as insertion/deletion (INDEL), have been developed. However, the genetic polymorphisms and distribution of INDELs in the Panamanian population was unknown. Using the Investigator® DIPplex kit (Qiagen), we report here for the first time the genetic profile of 30 INDEL markers in the Panamanian population. Gene admixture estimates and population structure indicated that the Panamanian population is differentially admixed highly polymorphic. Interestingly, admixture estimates where highly similar to our previous report using STR indicating Amerindian, African and European gene contributions. INDELs showed three gene clusters in these proportions: 0.46 (cluster 1), 0.24 (cluster 2) and 0.30 (cluster 3) versus 0.51 (Amerindian), 0.24 (African) and 0.25 (European) for STRs. We also found that both, INDELs and STRs indicated that ancestral gene distribution is heterogeneous among the provinces, across the country. Furthermore, allele frequency variation showed that all loci accomplished Hardy-Weinberg expectations and display high diversity as indicated by the average of observed heterozygosity (0.4477), expected heterozygosity (0.4553) and high similarity with reference U.S. and world populations. Additionally, forensic statistic parameters showed a strong significance in the combined power of discrimination (0.9999999999987) and the combined matching probability (1.27 × 10-12) but relatively lower significance in the combined power of exclusion (0.992655332). The forensic parameters calculated indicate that INDEL markers can be affectively applicable to the Panamanian population for forensic uses but should be complemented with additional markers, such as STRs for paternity analyses.
Highlights
Short tandem repeats (STRs) genotyping is one of the most extensively used systems of molecular markers for human forensic identification worldwide [1,2]
Page 3 of 8 Importantly, our STR studies involved the use of ancestral data from Amerindian (Ngobe-Chibchan), Western African (Angola and GuinéBissau) and European (Spain) populations and supported a tri-hybrid admixture model (K3)
We found that admixture estimates from both, INDELs and STRs (Table 1) were very similar for the total country 0.46, 0.24 and 0.30 for INDELs; versus 0.51 (Amerindian), 0.24 (African) and 0.25 (European) for STRs
Summary
Short tandem repeats (STRs) genotyping is one of the most extensively used systems of molecular markers for human forensic identification worldwide [1,2]. STRs have been successfully employed for forensic and paternity analyses in the Panamanian population for more than 15 years. We have used STR markers to characterize Amerindian Ngobe and Embera populations of Panama ( located in Costa Rica and Colombia, respectively) [3]. We determined the ancestry and tri-hybrid genetic structure with admixture estimates of the population of Panama using STR loci [4]. These markers have shown high polymorphism and genetic variation suitable for forensic and paternity analyses across the country’s provinces. Several reports indicate that the use of STRs might potentially be limited in some cases due to their PCR amplicon size and relatively high mutation rates [2,5,6]
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