深度测序技术及其在法医DNA检测中的潜在应用。

Q1 Social Sciences
Roxanne R. Zascavage, Shantanu J. Shewale, J. Planz
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引用次数: 9

摘要

第二代和第三代DNA测序技术的发展使其在分子诊断、基因治疗、食品和药品监测、生物安全和法医等不同领域的应用越来越多。这些技术基于不同的生化原理,如监测碱基结合后释放的焦磷酸盐(焦磷酸测序),荧光标记的终止碱基可逆结合后的荧光检测,基于结扎的方法,其中测量结扎后裂解核苷酸的荧光,测量结合碱基后释放的质子(半导体测序),通过测量附着在核苷酸磷酸链上的荧光团的荧光,以及通过检测由于核酸外切酶切割DNA链释放的核苷酸而导致的蛋白质纳米孔中电荷的改变,来监测核苷酸的掺入。并行分析多个DNA片段增加了覆盖深度,同时减少了人工、成本和时间,突出了深度测序技术的一些主要优势。DNA测序已被常规用于法医实验室的线粒体DNA分析。然而,由于第一代DNA测序方法的繁琐和昂贵的性质,片段分析是短串联重复基因分型的首选方法。深度测序技术为法医DNA分析带来了新的视角。研究包括STR分析以揭示重复区域的隐藏变异,mtDNA测序,单核苷酸多态性分析,混合物分辨率和体液鉴定。最近的出版物表明,正在努力扩大这种能力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Deep-Sequencing Technologies and Potential Applications in Forensic DNA Testing.
Development of second- and third-generation DNA sequencing technologies have enabled an increasing number of applications in different areas such as molecular diagnostics, gene therapy, monitoring food and pharmaceutical products, biosecurity, and forensics. These technologies are based on different biochemical principles such as monitoring released pyrophosphate upon incorporation of a base (pyrosequencing), fluorescence detection subsequent to reversible incorporation of a fluorescently labeled terminator base, ligation based approach wherein fluorescence of cleaved nucleotide after ligation is measured, measuring the proton released after incorporation of a base (semiconductor-based sequencing), monitoring incorporation of a nucleotide by measuring the fluorescence of the fluorophore attached to the phosphate chain of the nucleotide, and by detecting the altered charge in a protein nanopore due to released nucleotide by exonuclease cleavage of a DNA strand. Analysis of multiple DNA fragments in parallel increases the depth of coverage while decreasing labor, cost, and time, highlighting some major advantages of deep-sequencing technologies. DNA sequencing has been routinely used in the forensic laboratories for mitochondrial DNA analysis. Fragment analysis, however, is the preferred method for Short Tandem Repeat genotyping due to the cumbersome and costly nature of fi rst-generation DNA sequencing methodologies. Deep-sequencing technologies have brought a new perspective to forensic DNA analysis. Studies include STR analysis to reveal hidden variation in the repeat regions, mtDNA sequencing, Single Nucleotide Polymorphism analysis, mixture resolution, and body fluid identification. Recent publications reveal that attempts are being made to expand the capability.
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来源期刊
Forensic Science Review
Forensic Science Review Social Sciences-Law
CiteScore
1.90
自引率
0.00%
发文量
5
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