Felkl Aline Brugnera, Avila Eduardo, Gastaldo André Zoratto, Lindholz Catieli Gobetti, Dorn Márcio, Alho Clarice Sampaio
Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil; National Institute of Science and Technology - Forensic Science, Porto Alegre, RS, Brazil.
Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil; Technical Scientific Section, Federal Police Department in Rio Grande do Sul State, Porto Alegre, RS, Brazil; National Institute of Science and Technology - Forensic Science, Porto Alegre, RS, Brazil.
Forensic Sci Int Genet. 2023 May;64:102838. doi: 10.1016/j.fsigen.2023.102838. Epub 2023 Jan 23.
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). Interpopulation comparisons by F 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.
法医DNA表型分析（FDP）包括生物地理祖先（BGA）推断和直接从证据性DNA样本预测外部可见特征（EVC），作为在传统DNA分型无法实现识别时提供有价值情报的替代方法。在这种情况下，能够同时对多个样本和数百个法医标记进行分型的大规模平行测序（MPS）方法已逐渐应用于法医遗传学案件工作中。Precision ID祖先面板（美国赛默飞世尔科技公司，沃尔瑟姆）是一种法医多重检测方法，由165个常染色体单核苷酸多态性（SNP）组成，旨在提供生物地理祖先信息。在这项工作中，使用该面板对来自巴西南部南里奥格兰德州（RS）的250名个体样本进行了评估，这些个体被分为四个主要人群组（非洲裔、欧洲裔、美洲印第安裔和混血高乔人），以评估这种方法在高度异质人群中的可行性。为每个种群组估计的法医描述参数表明，该面板具有足够多的多态性和信息性SNP，可作为法医个体识别和亲属关系检测的补充工具，而不受种族影响。经Bonferroni校正后，未观察到与哈迪-温伯格平衡有统计学显著偏差。然而，在成对连锁不平衡（LD）测试中，七对基因座显示出连锁不平衡（p < 3.70×10）。通过F分析、多维尺度分析（MDS）图以及四个RS种群组之间以及与全球89个参考种群一起进行的结构分析进行的种群间比较表明，混血和非洲裔高乔人表现出最高水平的混合和种群分层，而欧洲裔和美洲印第安裔则表现出更均匀的遗传结构。
