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可变片段长度等位基因特异性基因分型分析

An Assay for Variable Fragment Length Allele-Specific Genotyping.

作者信息

Kalendar Ruslan, Shevtsov Vladislav, Ismailova Aisulu

机构信息

National Laboratory Astana, Nazarbayev University, Astana, Kazakhstan.

Department of Information Systems, S. Seifullin Kazakh Agrotechnical Research University, Astana, Kazakhstan.

出版信息

Methods Mol Biol. 2025;2943:1-17. doi: 10.1007/978-1-0716-4642-7_1.

DOI:10.1007/978-1-0716-4642-7_1
PMID:40580281
Abstract

Polymerase chain reaction (PCR) is a quick and easy technique used to detect nucleotide polymorphisms and sequence variations in various fields such as medicine, agriculture, and basic research. There exists a set of PCR variants, collectively called allele-specific PCR, which use competitive reactions in the presence of allele-specific primers to amplify only specific alleles. In this chapter, we present protocols for a bioinformatics tool that can be used to design PCR-based genotyping assays for variable fragment length allele-specific genotyping. This assay is designed in both directions and can target single-nucleotide polymorphisms and insertion/deletions. This chapter provides a step-by-step guide to design a multiplexed primer assay for variable fragment length allele-specific genotyping.

摘要

聚合酶链反应(PCR)是一种快速简便的技术,用于检测医学、农业和基础研究等各个领域中的核苷酸多态性和序列变异。存在一组PCR变体,统称为等位基因特异性PCR,它们在等位基因特异性引物存在下利用竞争性反应仅扩增特定等位基因。在本章中,我们介绍了一种生物信息学工具的方案,该工具可用于设计基于PCR的基因分型检测方法,用于可变片段长度等位基因特异性基因分型。该检测方法是双向设计的,可针对单核苷酸多态性和插入/缺失。本章提供了一个逐步指南,用于设计用于可变片段长度等位基因特异性基因分型的多重引物检测方法。

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本文引用的文献

1
A novel method of multiplex SNP genotyping assay through variable fragment length allele-specific polymerase chain reaction: Multiplex VFLASP-ARMS.一种通过可变片段长度等位基因特异性聚合酶链反应进行多重单核苷酸多态性基因分型检测的新方法:多重 VFLASP-ARMS。
Mol Cell Probes. 2024 Jun;75:101960. doi: 10.1016/j.mcp.2024.101960. Epub 2024 Apr 8.
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The power of retrotransposons in high-throughput genotyping and sequencing.逆转录转座子在高通量基因分型和测序中的作用
Front Plant Sci. 2023 Apr 25;14:1174339. doi: 10.3389/fpls.2023.1174339. eCollection 2023.
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Variable fragment length allele-specific polymerase chain reaction (VFLASP), a method for simple and reliable genotyping.
可变片段长度等位基因特异性聚合酶链反应(VFLASP),一种简单可靠的基因分型方法。
Mol Cell Probes. 2023 Jun;69:101910. doi: 10.1016/j.mcp.2023.101910. Epub 2023 Apr 10.
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A novel and cost-efficient allele-specific PCR method for multiple SNP genotyping in a single run.一种新型且经济高效的等位基因特异性 PCR 方法,可在单次运行中对多个 SNP 进行基因分型。
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Designing Allele-Specific Competitive-Extension PCR-Based Assays for High-Throughput Genotyping and Gene Characterization.设计基于等位基因特异性竞争性延伸PCR的高通量基因分型和基因表征检测方法。
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Modified "Allele-Specific qPCR" Method for SNP Genotyping Based on FRET.基于荧光共振能量转移的改良“等位基因特异性定量PCR”法用于单核苷酸多态性基因分型
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Universal probe-based intermediate primer-triggered qPCR (UPIP-qPCR) for SNP genotyping.基于通用探针的中间引物触发 qPCR(UPIP-qPCR)用于 SNP 基因分型。
BMC Genomics. 2021 Nov 24;22(1):850. doi: 10.1186/s12864-021-08148-2.
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Methods Mol Biol. 2022;2392:223-243. doi: 10.1007/978-1-0716-1799-1_16.
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Genetics. 2020 Oct;216(2):343-352. doi: 10.1534/genetics.120.303553. Epub 2020 Aug 17.