作者: Coren A Milbury , Jin Li , G Mike Makrigiorgos
DOI: 10.1373/CLINCHEM.2008.113035
关键词: Genetics 、 Amplicon 、 DNA 、 Mutant 、 COLD-PCR 、 Allele 、 Cancer detection 、 Dna variants 、 Biology 、 Polymerase chain reaction
摘要: Background: The ability to identify low-level somatic DNA mutations and minority alleles within an excess wild-type sample is becoming essential for characterizing early posttreatment tumor status in cancer patients. Over the past 2 decades, much research has focused on improving selectivity of PCR-based technologies enhancing detection (mutant) clinical samples. Routine application diagnostic settings requires that these techniques be accurate cost-effective require little effort optimize, perform, analyze. Content: Enrichment methods typically segregate by their enrich for, detect, either known or unknown mutations. Although there are several robust approaches detecting a high background DNA, few capable enriching One promising development COLD-PCR (coamplification at lower denaturation temperature), which enables enrichment PCR amplicons containing any position, such they can subsequently sequenced exact nucleotide change. Summary: This review summarizes available mutations, placing emphasis newer facilitate variants mutation sequenced. imperative applications, especially those related detection, continued technology warranted.