DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC).

作者: Bing Yu , Nicole A. Sawyer , Christine Chiu , Peter J. Oefner , Peter A. Underhill

DOI: 10.1002/0471142905.HG0710S48

关键词: DNADna mutationMolecular biologyThermal denaturationDenaturing high performance liquid chromatographyCandidate geneMutation detectionHeteroduplexNucleic Acid DenaturationBiology

摘要: DHPLC is an efficient method for candidate gene scanning with a high level of automation. Single-base substitutions and insertions or deletions up to 1.5 kb in PCR amplified DNA fragments can be detected. The exploits the differential retention homoduplex heteroduplex species under conditions partial thermal denaturation. provides useful platform high-throughput mutation detection SNP discovery.

参考文章(30)
Jenkins Fj, Turner Sl, Use of deoxyinosine in PCR to improve amplification of GC-rich DNA. BioTechniques. ,vol. 19, pp. 48- 52 ,(1995)
Gene Levinson, George A Gutman, Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Molecular Biology and Evolution. ,vol. 4, pp. 203- 221 ,(1987) , 10.1093/OXFORDJOURNALS.MOLBEV.A040442
Martin L. Katz, Aristotle N. Siakotos, Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway. American Journal of Medical Genetics. ,vol. 57, pp. 266- 271 ,(1995) , 10.1002/AJMG.1320570231
ALEXANDER KUKLIN, KIMBERLY MUNSON, DOUGLAS GJERDE, ROBERT HAEFELE, PAUL TAYLOR, Detection of Single-Nucleotide Polymorphisms with the WAVE™ DNA Fragment Analysis System Genetic Testing. ,vol. 1, pp. 201- 206 ,(1997) , 10.1089/GTE.1997.1.201
Quin Chou, Marion Russell, David E. Birch, Jonathan Raymond, Will Bloch, Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications. Nucleic Acids Research. ,vol. 20, pp. 1717- 1723 ,(1992) , 10.1093/NAR/20.7.1717
Herman Dierick, Michel Stul, Wim De Kelver, Peter Marynen, Jean-Jacques Cassiman, Incorporation of dITP or 7-deaza dGTP during PCR improves sequencing of the product Nucleic Acids Research. ,vol. 21, pp. 4427- 4428 ,(1993) , 10.1093/NAR/21.18.4427
Christian G. Huber, Peter J. Oefner, Guenther K. Bonn, Rapid and Accurate Sizing of DNA Fragments by Ion-Pair Chromatography on Alkylated Nonporous Poly(styrene-divinylbenzene) Particles Analytical Chemistry. ,vol. 67, pp. 578- 585 ,(1995) , 10.1021/AC00099A015
Roel A Ophoff, Gisela M Terwindt, Monique N Vergouwe, Ronald van Eijk, Peter J Oefner, Susan M.G Hoffman, Jane E Lamerdin, Harvey W Mohrenweiser, Dennis E Bulman, Maurizio Ferrari, Joost Haan, Dick Lindhout, Gert-Jan B van Ommen, Marten H Hofker, Michel D Ferrari, Rune R Frants, Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 Cell. ,vol. 87, pp. 543- 552 ,(1996) , 10.1016/S0092-8674(00)81373-2
P.J. Oefner, C.G. Huber, F. Umlauft, G.N. Berti, E. Stimpfl, G.K. Bonn, High-Resolution Liquid Chromatography of Fluorescent Dye-Labeled Nucleic Acids Analytical Biochemistry. ,vol. 223, pp. 39- 46 ,(1994) , 10.1006/ABIO.1994.1543