Laboratório de Genética Molecular Forense da Polícia Científica do Paraná, Curitiba, Brazil; Programa de Pós-Graduação em Genética, Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
Programa de Pós-Graduação em Genética, Departamento de Genética, Universidade Federal do Paraná, Curitiba, Brazil.
Forensic Sci Int Genet. 2022 May;58:102678. doi: 10.1016/j.fsigen.2022.102678. Epub 2022 Feb 8.
When DNA profile comparisons between a crime scene trace and a reference sample generate correspondence, the match probability has to be estimated, so that evaluation of the strength of the forensic DNA evidence can be made. The random match probability estimations require information on allele frequencies and an adjustment factor, referred to as theta (θ) or Fst, a co-ancestry correction factor for subpopulation effects. The θ value has been standardized for urban and isolated populations, but inconsistencies have been reported when it is specifically calculated for smaller and isolated populations, including Amerindian populations. Notably, attempts to characterize forensic markers of these minor populations have been extensively limited and more conservative estimates of the correction factor may be generated for each of them. Therefore, we estimate allele frequencies of 21 autosomal STR markers used for forensic testing and calculated relevant forensic parameters for the set. In addition, we featured the possible structure of five Brazilian Amerindian populations that have been genetically isolated for centuries so we could obtain the appropriate θ value for them. The sample consisted of 319 individuals: (1) 121 Kaingang, from two communities: Ivaí (KIV=61) and Rio das Cobras (KRC=60); and (2) 198 Guaranis from three communities: Mbya from Rio das Cobras (GRC=51), Guarani Ñandeva (GND=71) and Guarani Kaiowá (GKW=76). Between Guarani populations low (Rst=0.0402, p < 10) to high (Rst=0.1557, p < 10) differentiation was found. Regarding Guarani and Kaingang populations, intermediate (Rst=0.0590, p < 10) to high (Rst=0.1604, p < 10) differentiation was found. The two Kaingang populations showed very low differentiation between them (Rst=0.0017, p = 0.27), which justifies the union of both genetic data for forensic databases and calculations. The combined power of discrimination (PD) and the combined power of exclusion (PE) were calculated for each population, demonstrating the usefulness of this set of markers in forensic and kinship analysis regarding these populations. Considering the demographic heterogeneity of Amerindian populations in general, the Fst mean value (0.03) was evaluated regarding 43 different indigenous populations from the Americas, including Guaranis and Kaingangs. This result confirms the adequacy of the standardized θ value for the forensic random match probability estimations involving Amerindian populations.
当犯罪现场痕迹与参考样本之间的 DNA 图谱比较产生对应关系时,必须估计匹配概率,以便对法医 DNA 证据的强度进行评估。随机匹配概率估计需要等位基因频率信息和调整因子,称为 theta (θ) 或 Fst,这是亚群效应的共同血缘修正因子。θ 值已针对城市和孤立人群进行了标准化,但在具体针对较小和孤立人群(包括美洲印第安人群体)进行计算时,报告了不一致的情况。值得注意的是,对这些少数群体的法医标记进行特征描述的尝试受到了广泛限制,并且可能会为每个群体生成更保守的修正因子估计值。因此,我们估计了用于法医检验的 21 个常染色体 STR 标记的等位基因频率,并计算了该组的相关法医参数。此外,我们还介绍了五个已遗传隔离数百年的巴西美洲印第安人群体的可能结构,以便为他们获得适当的θ值。该样本由 319 人组成:(1) 121 名 Kaingang,来自两个社区:Ivaí (KIV=61) 和 Rio das Cobras (KRC=60);和 (2) 198 名 Guarani,来自三个社区:Mbya from Rio das Cobras (GRC=51)、Guarani Ñandeva (GND=71) 和 Guarani Kaiowá (GKW=76)。在 Guarani 人群中,发现了低 (Rst=0.0402, p < 10) 到高 (Rst=0.1557, p < 10) 的分化。关于 Guarani 和 Kaingang 种群,发现了中等 (Rst=0.0590, p < 10) 到高 (Rst=0.1604, p < 10) 的分化。两个 Kaingang 种群之间的分化非常低 (Rst=0.0017, p = 0.27),这证明了将这两个遗传数据合并用于法医数据库和计算是合理的。为每个群体计算了鉴别力 (PD) 和排除力 (PE) 的综合值,证明了这套标记在这些群体的法医和亲属分析中的有用性。考虑到美洲印第安人群体的人口异质性,评估了 43 个不同的美洲本土群体(包括 Guarani 和 Kaingang)的平均 Fst 值(0.03)。该结果证实了标准化 θ 值适用于涉及美洲印第安人群体的法医随机匹配概率估计。