Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: A novel concept for mutation scanning

Nucleic Acids Research

Volumn 34, Issue 6, 2006, Pages

  Tabone, Tania ^a,b   Sallmann, Georgina ^a,b   Webb, Elizabeth ^a,b   Cotton, Richard G H ^a,b  

^a Genomic Disorders Research Centre   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; DEOXYRIBONUCLEOTIDE; DNA; DNA FRAGMENT; OLIGONUCLEOTIDE; PERMANGANATE POTASSIUM; BETA GLOBULIN;

ARTICLE; BASE MISPAIRING; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA POLYMORPHISM; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PLASMID; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; SPECTROPHOTOMETRY; ULTRAVIOLET RADIATION; VALIDATION PROCESS; ANIMAL; CHEMISTRY; GENETICS; HETERODUPLEX ANALYSIS; INSTRUMENTATION; METHODOLOGY; MOLECULAR GENETICS; OXIDATION REDUCTION REACTION; POLYMERASE CHAIN REACTION; ULTRAVIOLET SPECTROPHOTOMETRY; VALIDATION STUDY;

ANIMALS; BASE PAIR MISMATCH; BASE SEQUENCE; BETA-GLOBULINS; DEOXYRIBONUCLEOTIDES; DNA MUTATIONAL ANALYSIS; HETERODUPLEX ANALYSIS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDES; OXIDATION-REDUCTION; POLYMERASE CHAIN REACTION; POTASSIUM PERMANGANATE; SPECTROPHOTOMETRY; SPECTROPHOTOMETRY, ULTRAVIOLET;

EID: 33645499120     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkl077     Document Type: Article

References (27)

1. Lander,E.S., Linton,L.M., Birren,B., Nusbaum,C., Zody,M.C., Baldwin,J., Devon,K., Dewar,K., Doyle,M., FitzHugh,W. et al. (2001) Initial sequencing and analysis of the human genome. Nature, 409, 860-921.
2. Cotton,R.G.H. (2002) Mutation Detection. In Creighton,T. (ed.), Encyclopedia of Molecular Medicine. Wiley, NY, pp. 2159-2162.
3. Ganguly,A., Rock,M.J. and Prockop,D.J. (1993) 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. Sci. USA, 90, 10325-10329.
4. Myers,R.M., Maniatis,T. and Lerman,L.S. (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Meth. Enzymol., 155, 501-527.
5. Khrapko,K., Hanekamp,J.S., Thilly,W.G., Belenkii,A., Foret,F. and Karger,B.L. (1994) Constant denaturing capillary electrophoresis (CDCE): a high-resolution approach to mutational analysis. Nucleic Acids Res., 22, 364-369.
6. Cotton,R.G., Rodrigues,N.R. and Campbell,R.D. (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Natl Acad. Sci. USA, 85, 4397-4401.
7. Youil,R., Kemper,B.W. and Cotton,R.G.H. (1995) Screening for mutations by enzyme mismatch cleavage using T4 endonuclease VII. Proc. Natl Acad. Sci. USA, 92, 87-91.
8. Youil,R., Kemper,B. and Cotton,R.G.H. (1996) Detection of 81 of 81 known mouse β-globin promotor mutations with T4 endonuclease VII-the EMC method. Genomics, 32, 431-435.
9. Till,B.J., Burtner,C., Comai,L. and Henikoff,S. (2004) Mismatch cleavage by single-strand specific nucleases. Nucleic Acids Res., 32, 2632-2641.
10. Oleykowski,C.A., Bronson Mullins,C.R., Godwin,A.K. and Yeung,A.T. (1998) Mutation detection using a novel plant endonuclease. Nucleic Acids Res., 26, 4597-4602.
11. Smith,J. and Modrich,P. (1996) Mutation detection with MutH, MutL and MutS mismatch repair proteins. Proc Natl Acad Sci USA, 93, 4374-4379.
12. Goldrick,M.M. (2001) RNase cleavage-based methods for mutation/SNP detection, past and present. Hum. Mutat., 18, 106-112.
13. Oefner,P.J. and Underhill,P.A. (1995) Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC). Am. J. Hum. Genet., 57, A266.
14. Wittwer,C.T., Reed,G.H., Gundry,C.N., Vandersteen,J.G. and Pryor,R.J. (2003) High-resolution genotyping by amplicon melting analysis using LCGreen. Clin. Chem., 49, 853-860.
15. Hayatsu,H., Atsumi,G., Nawamura,T., Kanamitsu,S., Negishi,K. and Maeda,M. (1991) Permanganate oxidation of nucleic acid components: A reinvestigation. Nucleic Acids Symp. Ser., 25, 77-78.
16. Hayatsu,H. (1996) The 5,6-double bond of pyrimidine nucleosides, a fragile site in nucleic acids. J. Biochem., 119, 391-395.
17. Freeman,F., Fuselier,C.O. and Karchefski,E.M. (1975) Permanganate ion oxidation of thymine: Spectrophotometric detection of a stable organomanganese intermediate. Tet. Letters, 25, 2133-2136.
18. Bui,C.T., Sam,L.A. and Cotton,R.C. (2003) UV-visible spectral identification of the solution-phase and solid-phase permanganate oxidation reactions of thymine acetic acid. Bioorg. Med. Chem. Lett., 14, 1313-1315.
19. Miret,J.J., Parker,B.O. and Lahue,R.S. (1996) Recognition of DNA insertion/deletion mismatches by an activity in Saccharomyces cerevisiae. Nucleic Acids Res., 24, 721-729.
20. Myers,R.M., Larin,Z. and Maniatis,T. (1985) Detection of single base substitution by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science, 230, 1242-1246.
21. Dean,M., Carrington,M., Winkler,C., Huttley,G.A., Smith,M.W., Allikmets,R., Goedert,J.J., Susan,P., Buchbinder,S.P., Vittinghoff,E. et al. (1996) Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Science, 273, 1856-1862.
22. Carrington,M., Kissner,T., Gerrard,B., Ivanov,S., O'Brien,S.J. and Dean,M. (1997) Novel alleles of the chemokine-receptor gene CCR5. Am. J. Hum. Genet., 61, 1261-1267.
23. Howgate,P., Jones,A.S. and Tittensor,J.R. (1968) The permanganate oxidation of thymidine. J. Chem. Soc C, 1, 275-279.
24. Gogos,J.A., Karayiorgou,M., Aburatani,H. and Kafatos,F.C. (1990) Detection of single base mismatches of thymine and cytosine residues by potassium permanganate and hydroxylamine in the presence of tetralkylammonium salts. Nucleic Acids Res., 18, 6807-6814.
25. Cotton,R.C., Bui,C. and Lambrinakos,A. (2002) Method of identifying differences between nucleic acid molecules. Patent 20040146875; PCT/AU02/ 00171.
26. Iida,S. and Hayatsu,H. (1970) The permanganate oxidation of deoxyribonucleic acid. Biochim. Biophys. Acta, 213, 1-13.
27. Rubin,C.M. and Schmid,C.W. (1980) Pyrimidine-specific chemical reactions useful for DNA sequencing. Nucleic Acids Res., 8, 4613-4619.