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在 SeqStudioTM HID 基因分析仪和 MiSeqTM FGx 法医基因组学系统之间对Y-STRs类型的一致性研究

Giulia Soldati¹, Stefania Turrina², Mirko Treccani³

¹Department of Diagnostics and Public Health, Section of Forensic Medicine, Forensic Genetics Lab, University of Verona, Verona, Italy. giulia.soldati_02@univr.it.

Molecular biology reports

|October 9, 2023

概括

大规模并行测序 (MPS) 提供详细的Y-short串联重复 (STR) 分析,提供可靠的法医遗传资料. 这项研究验证了MPS与Y-STR基因定型的毛细血管电泳 (CE) 的一致性.

科学领域:

法医遗传学法医遗传学
基因组学就是基因组学.
分子生物学分子生物学

背景情况:

大规模并行测序 (MPS) 通过提供大小和序列信息来增强短串重复 (STR) 分析.
验证MPS分析参数对于与传统毛细管电泳 (CE) 方法一致至关重要.
越来越多的Y-short串联重复 (Y-STR) 标记与自体性STR一起使用,需要进行比较分析.

研究的目的:

为了验证Y-STR基因型化结果与毛细管电泳 (CE) 和大规模并行测序 (MPS) 之间的一致性.
评估MPS对Y-STR位点的法医遗传分析的可靠性.

主要方法:

使用YfilerTM Plus PCR放大套件 (CE) 和ForenSeqTM DNA签名准备套件 (MPS) 来对125名无亲属男性的DNA进行基因型定型.
使用SeqStudioTM遗传分析仪 (CE) 和MiSeqTM FGx法医基因组学系统 (MPS) 分析样品.
对共享Y-STRs的等位基指定,基于长度和序列的等位基,口吃百分比和内平衡的选.

主要成果:

由CE和MPS生成的Y-STR配置文件的比较.
评估关键分析参数,包括等位基因指定和口吃百分比.
通过MPS获得的基于序列的信息的评估.

结论:

大规模并行测序 (MPS) 证明了产生可靠Y-STR配置文件的能力.
尽管产生了大量数据集,但MPS在法医STR分析中提供了宝贵的进步.
建议在常规法医实验室进一步采用和评估MPS.

关键词:

测试DNA的类型.法医验证和一致性研究.MiSeqTM FGx 法医基因组学系统对于HID的SeqStudioTM遗传分析仪 Y染色体的短串联重复 (Y-STRs)

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