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用Illumina的ForenSeq系统对形式素固定的骨样本进行法医STR和SNP基因定型

Tingting Yang^1,2, Linlin Gao³, Jiarong Zhang^1,2

¹School of Forensic Medicine, Shanxi Medical University, Jinzhong, Shanxi, China.

Electrophoresis

|October 15, 2024

概括

随着时间的推移,甲胺固定会降解骨样本中的DNA,影响法医学遗传分析. 大规模并行测序 (MPS) 显示出分析退化的DNA的前景,但随着更长的固定时间,检测率下降.

科学领域:

法医科学法医科学法医科学
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

形式素固定是保存法医组织的标准,但DNA提取和类型,特别是短串重复 (STR) 分析,具有挑战性.
大规模并行测序 (MPS) 为分析众多遗传标记提供了一种高通量方法,包括单核酸多态 (SNP) 和STR,使其适合降解证据.

研究的目的:

评估大规模并行测序 (MPS) 的有效性,用于在甲固定骨样本中对短串联重复 (STR) 和单核酸多态 (SNP) 的基因型定型.
确定甲胺固定时间对DNA质量和法医遗传标记物检测率的影响.

主要方法:

来自5个人的骨样本,固定在5至75天内,使用Illumina MiSeq FGX平台上的ForenSeq DNA签名准备套件进行了分析.
对STR和SNP的检测率和累积区分能力 (CDP) 进行了评估,与甲固定时间相关.

主要成果:

对STR和SNP的检测率随着甲固定持续时间的增加而显著下降.
经过75天的固定,STR和SNP的平均检测率分别只有4%和10%.
虽然SNP基因型定型保持了高累积歧视力 (>0.9999) 长达45天,但STR基因型定型的CDP在第22天下降到0.9930.

结论:

从甲固定骨中提取的DNA迅速降解,更长的固定时间严重减少了标记物检测.
大规模并行测序 (MPS) 是一种可行的工具,用于对已降解的甲固定样本进行法医遗传分析,但其效率取决于时间.
特定的STR和SNP显示检测率始终较低,这表明在降解样本中某些标记物的潜在限制.

关键词:

形式化固剂形式化固剂大规模并行测序.简短的串联重复 (STR)单核酸多态 (单核酸多态,简称SNP)骨架骨架是一个骨架.

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