Unveiling genetic diversity and forensic utility of SureID® human DNA identification kits: a comprehensive analysis of 44 autosomal STR loci in English and Irish populations

<b>Background:</b> Human identification and kinship testing in forensic science rely on Short Tandem Repeat (STR) multiplex kits, typically containing loci recommended by standard sets. However, complementary kits with additional STR loci can be valuable in complex cases. Allele frequency databases specific to the population are essential for accurate forensic analysis. <b>Aim:</b> This study aimed to generate allele frequencies and population genetic data for 44 autosomal STR loci from SureID^® PanGlobal and 27comp kits in English and Irish populations for forensic casework, human identification, and kinship testing. <b>Subjects and methods:</b> Buccal swab samples from 645 White Caucasians (365 English, 280 Irish) were collected. DNA was extracted and amplified using the mentioned kits. Quality control, statistical analysis, and genetic distance calculations were performed. <b>Results:</b> Both kits demonstrated robustness with no significant deviations from Hardy-Weinberg Equilibrium (HWE). Variant alleles and minor discordances between kits were observed. Syntenic STR pairs were identified but showed no significant linkage. A close genetic relationship was found between English and Irish populations, allowing for combined databases. <b>Conclusions:</b> The SureID^® PanGlobal and 27comp kits showed high discriminatory power and reliability in the English and Irish populations. Care is needed when handling variant alleles, discordances, and syntenic loci. Combining data from both populations is feasible for a comprehensive database. Further studies are required to explore their effectiveness in diverse populations.

背景：法医学中的个人识别与亲缘鉴定通常依赖于包含标准推荐基因座的短串联重复序列（Short Tandem Repeat，STR）多重扩增试剂盒。然而，带有额外STR基因座的互补试剂盒在复杂案件中具有重要应用价值。针对特定人群的等位基因频率数据库，对于精准的法医分析而言必不可少。目的：本研究旨在针对英格兰与爱尔兰人群中，使用SureID® PanGlobal试剂盒及27comp试剂盒检测的44个常染色体STR基因座，获取等位基因频率及群体遗传学数据，以服务于法医实务、个人识别与亲缘鉴定工作。对象与方法：收集了645名高加索白人的颊拭子样本（其中365名英格兰人、280名爱尔兰人）。采用上述试剂盒完成DNA提取与扩增，并开展质量控制、统计学分析及遗传距离计算。结果：两款试剂盒均表现出良好的实验稳健性，未出现显著偏离哈迪-温伯格平衡（Hardy-Weinberg Equilibrium，HWE）的情况。研究中观察到了变异等位基因及两款试剂盒间的微小结果不一致现象。此外，鉴定出了同线STR基因座对，但未发现显著的连锁关系。英格兰与爱尔兰人群间遗传关系密切，可合并构建等位基因频率数据库。结论：SureID® PanGlobal试剂盒与27comp试剂盒在英格兰及爱尔兰人群中展现出较高的鉴别能力与可靠性。在处理变异等位基因、结果不一致情况及同线基因座时需谨慎。合并两类人群的数据以构建综合数据库具备可行性。未来仍需开展进一步研究，以探索两款试剂盒在不同人群中的应用效果。