突尼斯和撒哈拉以南地区人群中区域STR标记变异的效用:对法医和群体遗传学的见解。

IF 3.9 Q2 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Frontiers in bioinformatics Pub Date : 2025-06-17 eCollection Date: 2025-01-01 DOI:10.3389/fbinf.2025.1550730
Asma Attaoui, Hajer Foddha, Houcemeddine Othman, Hassen Ben Abdennebi, Amel Haj Khelil
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引用次数: 0

摘要

简介:本研究调查了短串联重复序列(STR)位点的遗传变异性和法医适用性,包括常染色体,X和Y-STR标记,跨越突尼斯不同地区和撒哈拉以南非洲人群。我们的目标是检查突尼斯STR标记的区域等位基因多样性,并评估这些标记在突尼斯和撒哈拉以南非洲之间法医区分中的效用。方法:采用毛细管电泳检测试剂盒,对500例突尼斯人和501例撒哈拉以南地区尸体的22例str进行基因分型。等位基因分布采用卡方检验,地理等位基因变异采用主成分分析。使用R软件包中的生物信息学方法,如Logistic回归模型预测地理类群隶属度,随机森林模型评估分析str的判别能力。结果和讨论:统计分析显示,在突尼斯北部、中部和南部,D1S1656、D8S1179和CSF1PO等标记存在显著的等位基因变异。主成分分析表明突尼斯和撒哈拉以南人口之间存在明显的遗传差异,主要归因于地理和历史基因流动障碍。LRM预测地理隶属关系的准确率达到95.96%。RF分析表明DYS391在群体分化中具有高度判别性。我们的发现与先前对突尼斯遗传多样性的研究相一致,并通过说明等位基因频率变化来扩展这一知识,以便建立特定区域的数据库。结论:这项研究为突尼斯和撒哈拉以南地区人群的遗传结构提供了有价值的见解,强调了法医实践中的量身定制方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Utility of regional STR marker variations in Tunisian and sub-Saharan populations: insights into forensic and population genetics.

Utility of regional STR marker variations in Tunisian and sub-Saharan populations: insights into forensic and population genetics.

Utility of regional STR marker variations in Tunisian and sub-Saharan populations: insights into forensic and population genetics.

Utility of regional STR marker variations in Tunisian and sub-Saharan populations: insights into forensic and population genetics.

Introduction: This study investigates the genetic variability and forensic applicability of Short Tandem Repeat (STR) loci including autosomal, X and Y-STR markers, across distinct Tunisian regions and among sub-Saharan African populations. Our objectives were to examine the regional allelic diversity of STR markers in Tunisia, and to assess the utility of these markers for forensic differentiation between Tunisian and sub-Saharan African.

Methods: Twenty two STRs were genotyped in 500 Tunisian individuals and 501 sub-Saharan corpses by capillary electrophoresis using commercial system kits. A Chi-square test for homogeneity was applied to assess allele distribution and Principal Component Analysis to assess geographical allele variations. Bioinformatic methods in R packages were used, such as Logistic Regression Model to predict geographic group membership and Random Forest models to evaluate the discriminative power of the analyzed STRs.

Results and discussion: Statistical analyses revealed significant allelic variability between Northern, Central, and Southern Tunisia for markers such as D1S1656, D8S1179, and CSF1PO. PCA illustrated a clear genetic distinction between Tunisian and sub-Saharan populations, largely attributable to geographical and historical gene flow barriers. LRM achieved high accuracy (95.96%) in predicting geographic affiliation. RF analysis identified DYS391 as highly discriminative in population differentiation. Our findings align with prior research on Tunisian genetic diversity and extend this knowledge by illustrating allelic frequency variations in order to establish region-specific databases.

Conclusion: This study contributes valuable insights into the genetic structure of Tunisian and sub-Saharan populations, emphasizing tailored approaches in forensic practices.

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