Taylor Claire F
Cancer Research UK Genome Variation Service, St James's University Hospital, Leeds, UK.
Biochem Soc Trans. 2009 Apr;37(Pt 2):433-7. doi: 10.1042/BST0370433.
Mutation scanning techniques are used to detect sequence variants without the need for prior knowledge of the identity or precise location of the variant, in contrast with genotyping techniques, which determine the status of a specific variant. High-resolution melting is a recently developed method that shows great potential as a mutation scanning technique. Sensitivity and specificity for mutation detection are extremely high and the technique also has advantages of cost and throughput. Practical considerations for successful mutation scanning by high-resolution melting are also discussed in this review.
与确定特定变异状态的基因分型技术不同，突变扫描技术用于检测序列变异，无需事先了解变异的身份或精确位置。高分辨率熔解分析是一种最近开发的方法，作为一种突变扫描技术显示出巨大潜力。其检测突变的灵敏度和特异性极高，而且该技术在成本和通量方面也具有优势。本文还讨论了通过高分辨率熔解分析成功进行突变扫描的实际注意事项。
