点突变
计算生物学
克拉斯
高分辨率熔体
DNA测序
限制性片段长度多态性
生物
遗传学
DNA
基因
突变
生物信息学
计算机科学
聚合酶链反应
作者
Katerina Ondraskova,Ravery Sebuyoya,Ludmila Moráňová,Jitka Holčáková,Petr Voňka,Roman Hrstka,Martin Bartošík
标识
DOI:10.1007/s00216-022-04388-7
摘要
Cancer is a genetic disease induced by mutations in DNA, in particular point mutations in important driver genes that lead to protein malfunctioning and ultimately to tumorigenesis. Screening for the most common DNA point mutations, especially in such genes as TP53, BRCA1 and BRCA2, EGFR, KRAS, or BRAF, is crucial to determine predisposition risk for cancer or to predict response to therapy. In this review, we briefly depict how these genes are involved in cancer, followed by a description of the most common techniques routinely applied for their analysis, including high-throughput next-generation sequencing technology and less expensive low-throughput options, such as real-time PCR, restriction fragment length polymorphism, or high resolution melting analysis. We then introduce benefits of electrochemical biosensors as interesting alternatives to the standard methods in terms of cost, speed, and simplicity. We describe most common strategies involved in electrochemical biosensing of point mutations, relying mostly on PCR or isothermal amplification techniques, and critically discuss major challenges and obstacles that, until now, prevented their more widespread application in clinical settings.
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