Arrayed primer extension: Solid-phase four-color DNA resequencing and mutation detection technology

Genetic Testing

Volumn 4, Issue 1, 2000, Pages 1-7

  Kurg, Ants ^a   Tõnisson, Neeme ^a,d   Georgiou, Ioannis ^b   Shumaker, John ^c   Tollett, Jeff ^c   Metspalu, Andres ^a,d  

^a UNIVERSITY OF TARTU   (Estonia)

^b UNIVERSITY OF IOANNINA   (Greece)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d Asper Biotech Ltd   (Estonia)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYRIBONUCLEOTIDE; DNA; DNA POLYMERASE; OLIGONUCLEOTIDE;

ARTICLE; BETA THALASSEMIA; COLOR; DNA SEQUENCE; GENETIC POLYMORPHISM; HUMAN; IMAGING; MUTATION; SIGNAL NOISE RATIO;

BETA-THALASSEMIA; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EVALUATION STUDIES; FLUORESCENCE; FLUORESCENT DYES; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; MICROCHEMISTRY; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 1642618120     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065700316408     Document Type: Article

References (14)

1. AXELROD, D., BURGHARDT, T.P., and THOMPSON, N.L. (1984). Total internal reflection fluorescence. Annu. Rev. Biophys. Bioeng. 13, 247-268.
2. CAO, A., SABA, L., GALANELLO, R., and ROSATELLI, M. (1997). Molecular diagnosis and carrier screening for β-thalassemia. J. Am. Med. Assn. 278, 1273-1277.
3. CHEE, M., YANG, R., HUBBELL, E., BERNO, A., HUANG, X.C., STERN, D., WINKLER, J., LOCKHART, D.J., MORRIS, M.S., and FODOR, S.P.A. (1996). Accessing genetic information with high-density DNA arrays. Science 274, 610-614.
4. COTTON, R.G.H., EDKINS, E. and FORREST, S., eds. 1998. Mutation Detection. A Practical Approach. Oxford University Press, Inc., New York.
5. 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 light-generated DNA probe arrays. Hum. Mutat. 7, 244-255.
6. HACIA, J.G., BRODY, L.C., CHEE, M.S., FODOR, S.P.A., and COLLINS, F.S. (1996). Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nature Genet. 14, 441-447.
7. HEAD, S.R., ROGERS, Y.-H., PARIKH, K., LAN, G., ANDERSON, S., GOELET, P., and BOYCE-JACINO, M.T. (1997). Nested genetic bit analysis (N-GBA) for mutation detection in the p53 tumor supressor gene. Nucleic Acids Res. 25, 5065-5071.
8. HUISMAN, T.H.J., CARVER, M.F.H., and BAYSAL, E. (1998). A Syllabus of Thalassemia Mutations. (ed. by Sickle Cell Anemia Foundation, Augusta, GA).
9. LAMTURE, J.B., BEATTIE, K.L., BURKE, B.E., EGGERS, M.D., EHRLICH, D.J., FOWLER, R., HOLLIS, M.A., KOSICKI, B.B., REICH, R.K., SMITH, S.R., VARMA, R.S., and HOGAN, M.E. (1994). Direct detection of nucleic acid hybridization on the surface of a charge coupled device. Nucleic Acids Res. 22, 2121-2125.
10. LANGEGREN, U., NILSSON, M., and KWOK, P.-Y. (1998). Reading bits of genetic information: methods for single-nucleotide polymorphism analysis. Genome Res. 8, 769-776.
11. PASTINEN, T., KURG, A., METSPALU, A., PELTONEN, L., and SYVANEN, A.-C. (1997). Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res. 7, 606-614.
12. SHUMAKER, J.M., METSPALU, A., and CASKEY, T. (1996). Mutation detection by solid phase primer extension. Hum. Mutat. 7, 346-354.
13. SOUTHERN, E.M., MASKOS, U., and ELDER, J.K. (1992). Analyzing and comparing nucleic acid sequences by hybridization to arrays of oligonucleotides: evaluation using experimental models. Genomics 13, 1008-1017.
14. STIMPSON, D.I., HOIJER, J.V., HSIEH, W.T., JOU, C., GORDON, J., THERIAULT, T., GAMBLE, R., and BALDESCHWIELER, J.D. (1995). Real-time detection of DNA hybridization and melting on oligonucleotide arrays by using optical wave guides. Proc. Natl. Acad. Sci. USA 92, 6379-6383.