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碎片化核酸基因分型检测技术的研究进展。

Advances in Genotyping Detection of Fragmented Nucleic Acids.

机构信息

School of Chemical Engineering and Technology, Tianjin University, Tianjin 300350, China.

Key Laboratory of Systems Bioengineering (Ministry of Education), School of Chemical Engineering and Technology, Tianjin University, Tianjin 300072, China.

出版信息

Biosensors (Basel). 2024 Sep 28;14(10):465. doi: 10.3390/bios14100465.

Abstract

Single nucleotide variant (SNV) detection is pivotal in various fields, including disease diagnosis, viral screening, genetically modified organism (GMO) identification, and genotyping. However, detecting SNVs presents significant challenges due to the fragmentation of nucleic acids caused by cellular apoptosis, molecular shearing, and physical degradation processes such as heating. Fragmented nucleic acids often exhibit variable lengths and inconsistent breakpoints, complicating the accurate detection of SNVs. This article delves into the underlying causes of nucleic acid fragmentation and synthesizes the strengths and limitations of next-generation sequencing technology, high-resolution melting curves, molecular probes, and CRISPR-based approaches for SNV detection in fragmented nucleic acids. By providing a detailed comparative analysis, it seeks to offer valuable insights for researchers working to overcome the challenges of SNV detection in fragmented samples, ultimately advancing the accurate and efficient detection of single nucleotide variants across diverse applications.

摘要

单核苷酸变异(SNV)检测在多个领域都至关重要,包括疾病诊断、病毒筛查、转基因生物(GMO)鉴定和基因分型。然而,由于细胞凋亡、分子剪切以及加热等物理降解过程导致的核酸碎片化,SNV 的检测极具挑战性。碎片化的核酸通常具有不同的长度和不一致的断点,这使得 SNV 的准确检测变得复杂。本文深入探讨了核酸碎片化的根本原因,并综合了下一代测序技术、高分辨率熔解曲线、分子探针以及基于 CRISPR 的方法在碎片化核酸中 SNV 检测的优势和局限性。通过详细的比较分析,旨在为研究人员提供有价值的见解,帮助他们克服在碎片化样本中检测 SNV 的挑战,最终实现对不同应用中单核苷酸变异的准确高效检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99dd/11506436/44bd1b47246f/biosensors-14-00465-g001.jpg

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