Highlights
- •250 samples from four South Brazilian population groups were typed for 165 AISNPs.
- •All loci were in HW equilibrium, with association between seven loci pairs.
- •South Amerindians show greater miscegenation than European-derived Gauchos.
- •Admixed and African-derived present the highest levels of population stratification.
- •The panel is a promising tool for biogeographical ancestry and human identification.
Abstract
Forensic DNA phenotyping (FDP) includes biogeographic ancestry (BGA) inference and
externally visible characteristics (EVCs) prediction directly from an evidential DNA
sample as alternatives to provide valuable intelligence when conventional DNA profiling
fails to achieve identification. In this context, the application of Massively Parallel
Sequencing (MPS) methodologies, which enables simultaneous typing of multiple samples
and hundreds of forensic markers, has been gradually implemented in forensic genetic
casework. The Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA)
is a forensic multiplex assay consisting of 165 autosomal SNPs designed to provide
biogeographic ancestry information. In this work, a sample of 250 individuals from
Rio Grande do Sul (RS) State, southern Brazil, apportioned into four main population
groups (African-, European-, Amerindian-, and Admixed-derived Gauchos), was evaluated
with this panel, to assess the feasibility of this approach in a highly heterogeneous
population. Forensic descriptive parameters estimated for each population group revealed
that this panel has enough polymorphic and informative SNPs to be used as a supplementary
instrument in forensic individual identification and kinship testing regardless of
ethnicity. No statistically significant deviation from Hardy-Weinberg equilibrium
was observed after Bonferroni correction. However, seven loci pairs displayed linkage
disequilibrium in pairwise LD testing (p < 3.70 × 10-6). Interpopulation comparisons by FST analysis, MDS plot, and STRUCTURE analysis among the four RS population groups apart
and along with 89 reference worldwide populations demonstrated that Admixed- and African-derived
Gauchos present the highest levels of admixture and population stratification, whereas
European- and Amerindian-derived exhibit a more homogeneous genetic conformation.
Keywords
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Article info
Publication history
Accepted:
January 22,
2023
Received in revised form:
January 15,
2023
Received:
August 24,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 Elsevier B.V. All rights reserved.
