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阿根廷24个常染色体STR标记的等位基因频率。

Allele frequencies of 24 STR autosomal markers in Argentina.

作者信息

Biagini Sebastián, Canteros Malena Soledad, Ginart Santiago, Rabitti Luciana, Gagliardi Florencia, Furman Nicolás, Herrera Piñero Mariana

机构信息

Banco Nacional de Datos Genéticos (BNDG), Avda. Córdoba 831, Ciudad Autónoma de Buenos Aires, C1054AAH, Argentina.

出版信息

Mol Biol Rep. 2025 Jul 16;52(1):721. doi: 10.1007/s11033-025-10718-6.

Abstract

BACKGROUND

The study aimed to analyze allele frequencies of 24 short tandem repeats (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, PENTA E, PENTA D, D1S1656, D6S1043, D12S391, D22S1045, D2S441, SE33 and D10S1248) in an admixed population from Argentina to establish forensic parameters for individual identification and kinship testing. The rationale was to provide population-specific genetic data to support forensic casework across Argentinean provinces (except Tierra del Fuego).

METHODS AND RESULTS

Allele frequencies were calculated from 1000 unrelated individuals processed between 2018 and 2021. Forensic parameters - Gene Diversity (GD), observed/expected heterozygosity (H/H), Polymorphism Information Content (PIC), Random Match Probability (RPM), Power of Discrimination (PD), Power of Exclusion (PE), and Typical Paternity Index (TPI) were obtained using the Familias and Arlequin software. All genetic markers were in line with Hardy- Weinberg equilibrium with the SE33 marker showing the highest variability (PIC= 0.939) and the TPOX/ D22S1045 the lowest (PIC = 0.618; PIC= 0.610). Results ranged as follows: H (0.664-0.937); H (0.667-0.943); PIC (0.610-0.939); PE (0.375-0.871); PD (0.833-0.994); TPI (14.88-793.65).

CONCLUSIONS

The study provides reliable allele frequencies for forensic applications in Argentina, enhancing individual identification and kinship analysis. The findings contribute valuable insights into the genetic diversity of the Argentinean population, supporting their use in forensic investigations nationwide.

摘要

背景

本研究旨在分析阿根廷一个混合人群中24个短串联重复序列(STR)基因座(D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA、PENTA E、PENTA D、D1S1656、D6S1043、D12S391、D22S1045、D2S441、SE33和D10S1248)的等位基因频率,以建立用于个体识别和亲属关系检测的法医参数。目的是提供特定人群的遗传数据,以支持阿根廷各省(除火地岛外)的法医案件工作。

方法与结果

从2018年至2021年处理的1000名无关个体中计算等位基因频率。使用Familias和Arlequin软件获得法医参数——基因多样性(GD)、观察到的/预期的杂合度(H/H)、多态信息含量(PIC)、随机匹配概率(RPM)、鉴别力(PD)、排除力(PE)和典型父权指数(TPI)。所有遗传标记均符合哈迪-温伯格平衡,其中SE33标记显示出最高的变异性(PIC = 0.939),而TPOX/D22S1045最低(PIC = 0.618;PIC = 0.610)。结果如下:H(0.664 - 0.937);H(0.667 - 0.943);PIC(0.610 - 0.939);PE(0.375 - 0.871);PD(0.833 - 0.994);TPI(14.88 - 793.65)。

结论

本研究为阿根廷的法医应用提供了可靠的等位基因频率,增强了个体识别和亲属关系分析。这些发现为阿根廷人群的遗传多样性提供了有价值的见解,支持其在全国法医调查中的应用。

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