揭示SureID®人类DNA鉴定试剂盒的遗传多样性和法医实用性:对英国和爱尔兰人群中44个常染色体STR基因座的综合分析。

IF 1.2 4区 医学 Q2 ANTHROPOLOGY
Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-10 DOI:10.1080/03014460.2023.2265814
Sasitaran Iyavoo, Jessica Perry, Simon Knights, Michalis Mavrommatis, Tatiana Petrova, Abigail Bevan, Stephen Cummings, Sharlize Pedroza Matute, Danlu Song, Thomas Haizel
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引用次数: 0

摘要

背景:法医学中的人类鉴定和亲缘关系检测依赖于短串联重复序列(STR)多重试剂盒,通常包含标准集推荐的基因座。然而,具有额外STR基因座的互补试剂盒在复杂情况下可能很有价值。特定人群的等位基因频率数据库对于准确的法医学分析至关重要。目的:本研究旨在从英国和爱尔兰人群中的SureID®PanGlobal和27comp试剂盒中生成44个常染色体STR基因座的等位基因频率和群体遗传数据,用于法医案例工作、人类鉴定和亲属关系测试。受试者和方法:采集645名白人高加索人(365名英国人,280名爱尔兰人)的颊拭子样本。使用上述试剂盒提取并扩增DNA。进行质量控制、统计分析和遗传距离计算。结果:两个试剂盒都表现出了稳健性,与Hardy-Weinberg平衡(HWE)没有显著偏差。观察到变异等位基因和试剂盒之间的微小不一致。已鉴定出同源STR对,但没有显示出显著的连锁。在英国和爱尔兰人口之间发现了密切的基因关系,从而可以建立联合数据库。结论:SureID®PanGlobal和27comp试剂盒在英国和爱尔兰人群中显示出较高的辨别力和可靠性。处理变异等位基因、不一致和同基因座时需要小心。将这两个群体的数据结合起来建立一个全面的数据库是可行的。需要进一步的研究来探索它们在不同人群中的有效性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

Background: 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.Aim: 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.Subjects and methods: 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.Results: 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.Conclusions: 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.

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来源期刊
Annals of Human Biology
Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生
CiteScore
3.40
自引率
5.90%
发文量
46
审稿时长
1 months
期刊介绍: Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.
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