Analysis of short tandem repeats (STRs) is a global standard method for human identification. Insertion/Deletion polymorphisms (DIPs) can be used for biogeographical ancestry inference. Current DNA typing involves a trained forensic worker operating several specialized instruments in a controlled laboratory environment, which takes 6–8 h. We developed the Quick TargSeq 1.0 integrated system (hereinafter abbreviated to Quick TargSeq) for automated generation of STR and DIP profiles from buccal swab samples and blood stains. The system fully integrates the processes of DNA extraction, polymerase chain reaction (PCR) amplification, and electrophoresis separation using microfluidic biochip technology. Internal validation studies were performed using RTyper 21 or DIP 38 chip cartridges with single‐source reference samples according to the Scientific Working Group for DNA Analysis Methods guidelines. These results indicated that the Quick TargSeq system can process reference samples and generate STR or DIP profiles in approximately 2 h, and the profiles were concordant with those determined using traditional STR or DIP analysis methods. Thus, reproducible and concordant DNA profiles were obtained from reference samples. Throughout the study, no lane‐to‐lane or run‐to‐run contamination was observed. The Quick TargSeq system produced full profiles from buccal swabs with at least eight swipes, dried blood spot cards with two 2‐mm disks, or 10 ng of purified DNA. Potential PCR inhibitors (i.e., coffee, smoking tobacco, and chewing tobacco) did not appear to affect the amplification reactions of the instrument. The overall success rate and concordance rate of 153 samples were 94.12% and 93.44%, respectively, which is comparable to other commercially available rapid DNA instruments. A blind test initiated by a DNA expert group showed that the system can correctly produce DNA profiles with 97.29% genotype concordance with standard bench‐processing methods, and the profiles can be uploaded into the national DNA database. These results demonstrated that the Quick TargSeq system can rapidly generate reliable DNA profiles in an automated manner and has the potential for use in the field and forensic laboratories.

中文翻译：

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Quick TargSeq 1.0 集成系统的开发验证，用于法医学中参考样本的自动 DNA 基因分型

短串联重复序列 (STR) 分析是人类鉴定的全球标准方法。插入/删除多态性 (DIP) 可用于生物地理祖先推断。目前的 DNA 分型需要一名训练有素的法医工作人员在受控实验室环境中操作多种专用仪器，这需要 6 至 8 小时。我们开发了 Quick TargSeq 1.0 集成系统（以下简称 Quick TargSeq），用于从口腔拭子样本和血迹自动生成 STR 和 DIP 图谱。该系统利用微流控生物芯片技术完全集成了DNA提取、聚合酶链式反应(PCR)扩增和电泳分离的过程。根据 DNA 分析方法科学工作组指南，使用 RTyper 21 或 DIP 38 芯片盒和单一来源参考样品进行内部验证研究。这些结果表明，Quick TargSeq系统可以在大约2小时内处理参考样品并生成STR或DIP图谱，并且图谱与使用传统STR或DIP分析方法确定的图谱一致。因此，从参考样品中获得了可重复且一致的 DNA 谱。在整个研究过程中，没有观察到车道间或批次之间的污染。Quick TargSeq 系统通过至少 8 次擦拭的口腔拭子、带有两个 2 mm 圆盘的干燥血点卡或 10 ng 纯化 DNA 生成完整的轮廓。潜在的 PCR 抑制剂（即咖啡、吸烟烟草和咀嚼烟草）似乎不会影响仪器的扩增反应。153个样本的总体成功率和一致性率分别为94.12%和93.44%，与其他市售快速DNA仪器相当。DNA专家组发起的盲测表明，该系统能够按照标准的台式处理方法正确生成DNA图谱，基因型一致性达到97.29%，并可上传至国家DNA数据库。这些结果表明，Quick TargSeq 系统可以以自动化方式快速生成可靠的 DNA 图谱，并具有在现场和法医实验室中使用的潜力。