关键词: DNA typing Forensic validation studies GlobalFiler™ IQC Amplification Kit SeqStudio™ Genetic Analyzer for HID Short tandem repeats (STRs)

Mesh : Humans Reproducibility of Results Forensic Anthropology Polymerase Chain Reaction High-Throughput Nucleotide Sequencing / methods DNA Fingerprinting Microsatellite Repeats Forensic Genetics

来  源:   DOI:10.1007/s00414-023-03016-y   PDF(Pubmed)

Abstract:
The SeqStudio™ for human identification (HID) is a new benchtop capillary electrophoresis (CE) platform recently developed by Applied Biosystems for genotyping and sequencing short tandem repeat (STR) fragments. Compared to the previous series of CE systems developed by this maker, it is more compact and easier to use. Moreover, by allowing the detection of 4 to 8 fluorescent dyes, it seems to be fully compatible with the different kits of autosomal and gonosomal STR markers usually used in forensic genetics, which are available in trade and supplied by various manufacturers. However, being a new CE model, before its routine use in forensic genetics applications, it should undergo appropriate analytical validation studies in its own laboratories to understand its potential and limitations. A series of experiments on DNA samples coming from cell line controls, using the GlobalFiler™ IQC Amplification Kit, were carried out to meet this purpose. The SeqStudio™ Genetic Analyzer for HID\'s findings on genotyping reproducibility (precision and accuracy of sizing), sensitivity, signal variability between dyes (intra- and inter-color channel balance), and stutter ratios are reported. These findings confirm the validity of this new CE system and its capability to generate reliable results.
摘要:
用于人类鉴定(HID)的SeqStudio™是一种新的台式毛细管电泳(CE)平台,最近由AppliedBiosystems开发,用于对短串联重复序列(STR)片段进行基因分型和测序。与该制造商开发的前一系列CE系统相比,它更紧凑,更易于使用。此外,通过检测4至8种荧光染料,它似乎与通常用于法医遗传学的常染色体和性腺体STR标记的不同试剂盒完全兼容,这些产品可在贸易中使用,并由各种制造商提供。然而,作为一个新的CE模型,在常规用于法医遗传学应用之前,它应该在自己的实验室进行适当的分析验证研究,以了解其潜力和局限性。对来自细胞系对照的DNA样本进行了一系列实验,使用GlobalFiler™IQC扩增试剂盒,是为了达到这个目的而进行的。SeqStudio™基因分析仪对HID基因分型再现性(精密度和大小测定的准确度)的发现,灵敏度,染料之间的信号变异性(颜色通道内和颜色通道间平衡),报告了口吃比率。这些发现证实了这种新CE系统的有效性及其产生可靠结果的能力。
公众号