通过将mRNA和编码区域SNP的向测序相结合,全面识别体液和贡献者分配
Maximilian Neis1, Theresa Groß2, Harald Schneider2
1Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany.
Forensic science international. Genetics
|August 25, 2024
概括
法医RNA分析现在可以识别体液,并使用新的mRNA/cSNP面板将贡献者分配到混合痕迹中. 这种先进的方法改善了犯罪现场的DNA证据解释.
科学领域:
- 法医遗传学 法医遗传学
- 分子生物学分子生物学
- 生物化学 生物化学
背景情况:
- 标准的短串重复 (STR) 分析仅限于识别混合生物样本的特定贡献者.
- 法医RNA分析可以识别体液,但无法区分混合物中的嫌疑人.
- 大规模并行测序 (MPS) 提供了在mRNA中个性化遗传信息的潜力.
研究的目的:
- 开发一个mRNA/cSNP小组,用于有针对性的测序,以识别体液,并将贡献者分配给混合的法医样本.
- 为了使体液成分在混合痕迹中的个性化,使用编码区域单核酸多态 (cSNPs).
主要方法:
- 开发一个有针对性的测序面板,用于6种体液/组织的30个标记物和70个链接控制的cSNP.
- 该面板在IonTorrent S5平台上的应用,用于从生物痕迹中分析RNA.
- 对cSNP配置文件的检测灵敏度的评估和身份概率的计算.
主要成果:
- 开发的小组可靠地检测体液,并使用cSNPs分配贡献者.
- 高检测灵敏度是通过低至0.75 ng的RNA输入实现的.
- 对于个体体液特异性cSNP配置文件的识别计算概率在0.03%至6%之间.
结论:
- 新的mRNA/cSNP小组通过使身体液体成分的源级归属能够显著推进法医证据的解释.
- 这种方法可以将嫌疑人和受害者与特定的生物证据联系起来,从而减少关联谬误.
- 未来的工作包括优化标记物和扩大面板,包括额外的组织类型.
更多相关视频
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
12.9K
11:49Enhanced Genetic Analysis of Single Human Bioparticles Recovered by Simplified Micromanipulation from Forensic ‘Touch DNA’ Evidence
Published on: March 9, 2015
15.7K
相关概念视频
Ribosome Profiling
3.5K
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique...
3.5K
RNA-seq
9.9K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.9K
Genome-wide Association Studies-GWAS
13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.2K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
