DNA mutations, detection

Jiang, Y., Hall, T. A., Hofstadler, S. A., and Naviaux, R. K. (2007). Mitochondrial DNA mutation detection by electrospray mass spectrometry. Clin. Chem. 53 195-203. 

Overview of Ligase-based Methods for DNA Mutation Detection. 172... 

Buch JS, Kimball C, Rosenberger F, Highsmith WE, DeVoe DL, Lee CS (2004) DNA mutation detection in a polymer microfluidic network using temptuatiire gradient gel electrophraBsis. Anal Chem 76(4) 874-881... 

P. J. Oefner and P. A. Underhill, DNA Mutation detection using denaturing high-performance liquid chromatography, in Current Protocols in Human Genetics (eds N. C. Dracopoli,... 

These three NIST SRMs have a number of important quality control applications for forensic DNA profiling, medical diagnostics and mutation detection. The main applications are summarized below ... 

Ievin BC, Cheng H and Reeder DJ (1999) A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection. Genomics 55 135-146. 

Although 1-aminopyrene is a reduced metabolite of 1-nitropyrene, this arylamine will not covalently bind to DNA in vitro (72). In contrast, when incubations were conducted with the intermediate reduction product, N-hydroxy-l-aminopyrene, extensive covalent binding to DNA was detected (72). This observation is consistent with the previous report that several N-hydroxy arylamines formed DNA adducts and induced mutations in S. typhimurium (116), and suggests that, at least for 1-nitropyrene, reduction to N-hydroxy-l-aminopyrene is a critical step in mutation induction. 

Patolsky F, Lichtenstein A, Willner I (2001) Detection of single-base DNA mutations by enzyme-amplified electronic transduction. Nat Biotechnol 19 253-258... 

Gasser, R.B. and Zhu, X.Q. (1999) Sequence-based analysis of enzymatically amplified DNA fragments by mutation detection techniques. Parasitology Today 15, 462 165. 

Tian, H.J., Landers, J.P., Hydroxyethylcellulose as an effective polymer network for DNA analysis in uncoated glass microchips optimization and application to mutation detection via heteroduplex analysis. Anal. Biochem. 2002,309,212-223. 

Wang, Y., Vaidya, B., Farquar, H.D., Stryjewski, W., Hammer, R.P., McCarley, R.L., Soper, S.A., Cheng, Y.-W., Barany, F., Microarrays assembled in microfluidic chips fabricated from poly(methyl methacrylate) for the detection of low-abundant DNA mutations. Anal. Chem. 2003, 75, 1130-1140. 

Kurg A, Tonisson N, Georgiou I, Shumaker J, Tollett J, Metspalu A. Arrayed primer extension solid-phase four-color DNA resequencing and mutation detection technology. Genet Test 2000 4 1-7. 

DNA is available in human sperm and in white blood cells. From these sources, it should be possible to obtain DNA to detect changes resulting from agents, such as alkylating agents, that react chemically to cause mutations. In experimental animals, this can be done easily with radioactive tracers.238 Very sensitive and precise radioimmunoassays being developed may greatly improve quantitative assessment, so that this technique could be applied to experimental animals and man. No practical chemical assay has been developed that can be... 

AZAGUANINE An analogue of the normal DNA and RNA purine base guanine selection for resistance to the toxic effects of 8-azaguanine is the basis of several mutation-detection systems. 

The DNA microarray technology has several applications. In the beginning it was applied for gene expression monitoring and then for mutation detection, mapping and evolutionary studies. Some of these aspects are discussed in this section. 

Cronin, M.T., Fucini, R.V., Kim, S.M., Masino, R.S., Wespi, R.M. and Miyada, C.G. (1996) Cystic Fibrosis mutation detection by hybridization to hght-generated DNA probe arrays. Human Mutation, 7 244-255. 

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