从严重烧伤的骨遗骸中向丰富全基因组SNP
Matthew V Emery1,2,3, Katelyn Bolhofner4,5, Laure Spake1
1Department of Anthropology, Binghamton University, Binghamton, New York, USA.
Journal of forensic sciences
|February 28, 2024
概括
对被烧伤的遗体进行法医遗传分析是具有挑战性的. 这项研究发现,骨元素和烧伤严重程度,而不是提取方法,影响DNA质量,推特定的骨类型以获得更好的结果.
科学领域:
- 法医科学 法医科学 法医科学
- 遗传学 是一个遗传学.
- 生物考古学的生物考古学
背景情况:
- 从火灾中评估退化的人类骨材料对法医DNA分析提出了挑战.
- 有限的研究存在于热降解对整个基因组单核酸多态 (SNP) 数据质量和数量通过下一代测序 (NGS) 的影响.
研究的目的:
- 调查热降解对全基因组SNP数据的影响,这些数据来自受火灾影响的人类遗骸.
- 评估不同骨元素和DNA提取技术对遗传数据恢复的影响.
主要方法:
- 从27名火灾受害者的骨和牙中生成了全基因组SNP数据,使用了两种提取方法.
- 准备了DNA库,使用RNA诱为全基因组SNP进行了丰富,并在Illumina NextSeq 550上进行了测序.
- 数据处理涉及EAGER管道,使用SNP过和使用FreeBayes和GATK进行调用.
主要成果:
- 骨元素和燃烧类别,不是提取类型,主要决定SNP变化和保存.
- 长骨,手/脚骨和牙暴露在350°C以下的温度下,产生更高的基因组DNA.
- 在捕获的SNP数量和烧伤严重程度之间观察到一个反向相关性,在350°C以上,SNP显著减少.
结论:
- 骨元素的选择和了解烧伤严重程度对于优化火灾损坏遗骸中的DNA恢复至关重要.
- 这些发现有助于法医应用,通过识别最佳来源,从被烧伤的个体进行遗传识别.
- 当传统方法产生不够的DNA时,修改的Dabney提取可能是有益的.
相关概念视频
Comparing Copy Number Variations and SNPs
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%...
Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Genome-wide Association Studies-GWAS
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...


