PCR-Based Methods for the Enrichment of Minority Alleles and Mutations

作者: Coren A Milbury , Jin Li , G Mike Makrigiorgos

DOI: 10.1373/CLINCHEM.2008.113035

关键词: GeneticsAmpliconDNAMutantCOLD-PCRAlleleCancer detectionDna variantsBiologyPolymerase 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.

参考文章(42)
Culbertson Ta, Williams Gm, Kahn Sm, Weinstein Ib, Jiang W, Ronai Z, Tomita N, Rapid and sensitive nonradioactive detection of mutant K-ras genes via 'enriched' PCR amplification. Oncogene. ,vol. 6, pp. 1079- ,(1991)
Qiang Liu, Steve S. Sommer, Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification. BioTechniques. ,vol. 29, pp. 1072- 1083 ,(2000) , 10.2144/00295RR03
P Keohavong, J K Scott, N F Cariello, W G Thilly, A G Kat, Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich. American Journal of Human Genetics. ,vol. 42, pp. 726- 734 ,(1988)
Robyn Ward, Nicholas Hawkins, Roslynn O'Grady, Catherine Sheehan, Terence O'Connor, Helen Impey, Natalie Roberts, Caroline Fuery, Alison Todd, Restriction Endonuclease-Mediated Selective Polymerase Chain Reaction The American Journal of Pathology. ,vol. 153, pp. 373- 379 ,(1998) , 10.1016/S0002-9440(10)65581-2
Satoshi Takeda, Shigetoshi Ichii, Yusuke Nakamura, Detection of K-ras mutation in sputum by mutant-allele-specific amplification (MASA) Human Mutation. ,vol. 2, pp. 112- 117 ,(1993) , 10.1002/HUMU.1380020209
Robert Wagner, Paul Debble, Miroslav Radman, MUTATION DETECTION USING IMMOBILIZED MISMATCH BINDING PROTEIN (MUTS) Nucleic Acids Research. ,vol. 23, pp. 3944- 3948 ,(1995) , 10.1093/NAR/23.19.3944
Reid P. Oldenburg, Monica S. Liu, Michael S. Kolodney, Selective amplification of rare mutations using locked nucleic acid oligonucleotides that competitively inhibit primer binding to wild-type DNA. Journal of Investigative Dermatology. ,vol. 128, pp. 398- 402 ,(2008) , 10.1038/SJ.JID.5700920
STEVE S. SOMMER, JOSLYN D. CASSADY, JANET L. SOBELL, CYNTHIA D.K. BOTTEMA, A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria. Mayo Clinic proceedings. ,vol. 64, pp. 1361- 1372 ,(1989) , 10.1016/S0025-6196(12)65378-6
William R. Easterday, Matthew N. Van Ert, Shaylan Zanecki, Paul Keim, Specific detection of bacillus anthracis using a TaqMan mismatch amplification mutation assay. BioTechniques. ,vol. 38, pp. 731- 735 ,(2005) , 10.2144/05385ST03