Mutation and single nucleotide polymorphism detection using temperature gradient capillary electrophoresis

References

• Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl Acad. Sc]. USA 86,2766–2770 (1989).
   PubMed Web of Science ®Google Scholar
• Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl Acad. Sc]. USA 90, 10325–10329 (1993).
   Google Scholar
• Fischer SG, Lerman LS. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory. Proc. Natl Acad. Sc]. USA 80,1579–1583 (1983).
   PubMed Web of Science ®Google Scholar
• Riesner D, Steger G, Zimmat R eta]. Temperature-gradient gel electrophoresis of nucleic acids: analysis of conformational transitions, sequence variations and protein—nucleic acid interactions. Electrophoresis 10,377–389 (1989).
   PubMed Web of Science ®Google Scholar
• Hebenbrock K, Williams PM, Karger BL. Single strand conformational polymorphism using capillary electrophoresis with two-dye laser-induced fluorescence detection. Electrophoresis 16, 1429–1436 (1995).
   Google Scholar
• Rozycka M, Collins N, Stratton MR, Wooster R. Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis. Cenomics 70,34–40 (2000).
   Google Scholar
• •Describes the separation of DNA homo- and heteroduplexes by capillary electrophoresis (CE) without a temperature gradient or denaturant.
   Google Scholar
• Gelfi C, Righetti SC, Zunino F eta]. Detection of p53 point mutations by double-gradient, denaturing gradient gel electrophoresis. Electrophoresis 18, 2921–2927 (1997).
   Google Scholar
• Gelfi C, Righetti PG, Cremonesi L, Ferrari M. Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients. Electrophoresis 15,1506–1511 (1994).
   PubMed Web of Science ®Google Scholar
• •Original work describing the separation of homo- and heteroduplexes using CE with temporal temperature gradients.
   Google Scholar
• Eng C, Vijg J. Genetic testing: the problems and the promise. Nature Biotechnol 15,422–426 (1997).
   PubMedGoogle Scholar
• Zhu L, Lee HK, Lin B, Yeung ES. Spatial temperature gradient capillary electrophoresis for DNA mutation detection. Dectrophoresis 22,3683-3687 (2001). iiSchell J, Wulfert M, Riesner D. Detection of point mutations by capillary electrophoresis with temporal temperature gradients. Dectrophoresis 20,2864–2869 (1999).
   Google Scholar
• Gao Q, Yeung ES. High-throughput detection of unknown mutations by using multiplexed capillary electrophoresis with poly (vinylpyrrolidone) solution. Anal Chem. 72,2499–2506 (2000).
   PubMed Web of Science ®Google Scholar
• Li Q, Liu Z, Monroe H, Culiat CT Integrated platform for detection of DNA sequence variants using capillary array electrophoresis. Electrophoresis 23, 1499–1511 (2002).
   PubMedGoogle Scholar
• •Describes the use of and temperature gradient capillary electrophoresis (TGCE) without a chemical denaturant for separation of homo- and heteroduplexes using the 96-capillary SpectruMedix instrumentation.
   Google Scholar
• Bjorheim J, Lystad S, Lindblom A eta]. Mutation analyses of K-RASexon 1 comparing three different techniques: temporal temperature gradient electrophoresis, constant denaturant capillary electrophoresis and allele specific polymerase chain reaction. Mutat. Res. 403, 103–112 (1998).
   Google Scholar
• Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Natl Acad. Sc]. USA 86,232–236 (1989).
   Google Scholar
• Kristensen AT, Bjorheim J, Ekstrom PO. Detection of mutations in exon 8 of 7P53 by temperature gradient 96-capillary array electrophoresis. Biotechniques 33,650–653 (2002).
   Google Scholar
• •Describes the use of the 96-capillary MegaBACE instrument for separation of homo- and heteroduplexes using a matrix containing a chemical gradient. The method was validated by testing samples containing mutations in exon 8 of 1P53.
   Google Scholar
• Murphy KM, Hafez MJ, Philips J eta]. Evaluation of temperature gradient capillary electrophoresis for detection of the Factor V Leiden mutation: coincident identification of a novel polymorphism in Factor V. Mol Div. 7,35–40 (2003).
   Google Scholar
• Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for Factor V Leiden (activated protein C resistance). Blood 85, 1504–1508 (1995).
   PubMed Web of Science ®Google Scholar
• Ridker PM, Hennekens CH, Lindpaintner K et al Mutation in the gene coding for coagulation Factor V and the risk of myocardial infarction, stroke and venous thrombosis in apparently healthy men. NEngI.J Med. 332,912–917 (1995).
   PubMed Web of Science ®Google Scholar
• Bertina RM, Koeleman BP, Koster T eta]. Mutation in blood coagulation Factor V associated with resistance to activatedprotein C. Nature 369,64–67 (1994).
   Google Scholar
• Minarik M, Minarikova L, Bjorheim J, Ekstrom PO. Cycling gradient capillary electrophoresis: a low-cost tool for high-throughput analysis of genetic variations. Dectrophoresis 24,1716–1722 (2003).
   PubMedGoogle Scholar