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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations.
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Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations.

机译：将单个DNA分子转化为荧光磁性颗粒，以检测和枚举遗传变异。

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摘要

Many areas of biomedical research depend on the analysis of uncommon variations in individual genes or transcripts. Here we describe a method that can quantify such variation at a scale and ease heretofore unattainable. Each DNA molecule in a collection of such molecules is converted into a single magnetic particle to which thousands of copies of DNA identical in sequence to the original are bound. This population of beads then corresponds to a one-to-one representation of the starting DNA molecules. Variation within the original population of DNA molecules can then be simply assessed by counting fluorescently labeled particles via flow cytometry. This approach is called BEAMing on the basis of four of its principal components (beads, emulsion, amplification, and magnetics). Millions of individual DNA molecules can be assessed in this fashion with standard laboratory equipment. Moreover, specific variants can be isolated by flow sorting and used for further experimentation. BEAMing can be used for the identification and quantification of rare mutations as well as to study variations in gene sequences or transcripts in specific populations or tissues.
机译：生物医学研究的许多领域都依赖于对单个基因或转录本中不常见变异的分析。在这里，我们描述了一种方法，该方法可以在一定程度上量化这种变化并简化迄今为止无法实现的变化。此类分子集合中的每个DNA分子都转换为单个磁性粒子，与原始序列顺序相同的数千个DNA拷贝与该单个磁性粒子结合。然后，该珠子群体对应于起始DNA分子的一对一表示。然后，可以通过流式细胞术对荧光标记的颗粒进行计数，从而简单地评估原始DNA分子种群内的变异。这种方法基于其四个主要成分（磁珠，乳剂，放大和磁性）被称为BEAMing。可以使用标准实验室设备以这种方式评估数百万个单独的DNA分子。此外，可以通过流分类分离特定的变体，并用于进一步的实验。 BEAMing可用于识别和量化罕见突变，以及研究特定人群或组织中基因序列或转录本的变异。

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