Mutation detection by chemical cleavage

R.G.H. Cotton
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引用次数: 14

Abstract

Detection and amplification of mutations in genes in a cheap, 100% effective manner is a major objective in modern molecular genetics. This ideal is some way away and many methods are used each of which have their own particular advantages and disadvantages. Sequencing is often thought of as the ‘gold standard’ for mutation detection. This perception is distorted due to the fact that this is the ONLY method of mutation identification but this does not mean it is the best for mutation detection. The fact that many scanning methods detect 5–10% of mutant molecules in a wild type environment immediately indicates these methods are advantageous over sequencing. One such method, the Chemical Cleavage method, is able to cut the costs of detecting a mutation on order of magnitude and guarantees mutation detection as evidenced by track record and the fact that each mutation has two chances of being detected.

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化学裂解突变检测
以廉价、100%有效的方式检测和扩增基因突变是现代分子遗传学的主要目标。这个理想还有一段路要走,使用了许多方法,每种方法都有自己特定的优点和缺点。测序通常被认为是突变检测的“金标准”。这种看法是扭曲的,因为这是突变识别的唯一方法,但这并不意味着它是突变检测的最佳方法。事实上,许多扫描方法在野生型环境中立即检测到5-10%的突变分子,这表明这些方法比测序更有优势。其中一种方法,化学切割法,能够在数量级上降低检测突变的成本,并保证突变检测,这可以通过跟踪记录和每个突变有两次被检测到的机会来证明。
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