Ligase Chain Reaction for the Detection of Specific DNA Sequences and Point Mutations
DNA diagnostics is a new field that utilizes the techniques of molecular biology to identify and characterize the specific genetic material associated with genetic, neoplastic, and infectious diseases. DNA diagnostics grew out of the discoveries made possible using molecular cloning and DNA sequencing techniques beginning in the mid-1970s. Despite the availability of exquisitely specific reagents such as restriction endonucleases, synthetic oligonucleotides, and cloned DNA and cDNA probes, as well as technologies such as electrophoretic methods to fractionate DNA and novel DNA hybridization methods (Southern and Northern blots, dot blot, etc.), DNA diagnostic procedures were not immediately adopted by clinical laboratories. This failure was due in part to the long turnaround times, the lack of sensitivity, and the lack of reliable nonradioactive detection procedures.
KeywordsHuman Papilloma Virus Cystic Fibrosis Transmembrane Conductance Regulator Chlamydia Trachomatis Ligation Product Cystic Fibrosis Transmembrane Regulator
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- Birkenmeyer, L., and Armstrong, A. S. (1992). Preliminary evaluation of the ligase chain reaction for specific detection of Neisseria gonorrhoeae. J. Clin. Microbiol. 30:3089–3094.Google Scholar
- Chernesky, M. A., Jang, D., Lee, H., Burczak, J. D., Hu, H., Sellors, J., Tomazic-Allen, S. J., and Mahony, J. B. (1994a). Diagnosis of Chlamydia trachomatis infections in men and women by testing first-void urine by ligase chain reaction. J. Clin. Chem. 32:2682–2685.Google Scholar
- Chemesky, M. A., Lee, H, Schachter, J., Burczak, J. D., Stamm, W. E., McCormack, W. M., and Quinn, T. C. (1994b). Diagnosis of Chlamydia trachomatis urethral infection in symptomatic and asymptomatic men by testing first-void urine in a ligase chain reaction assay. J. Infect. Dis. 170:1308–1311.CrossRefGoogle Scholar
- Grimberg, J., Lin, C. P., Sheridan, K., Tackney, C., and Waksal, J. (1993). Detection of serum hepatitis B virus DNA sequence by the repair chain reaction DNA amplification system. Clin. Chem. 39:738.Google Scholar
- Grossman, P. D., Bloch, W., Brinson, E., Chang, C. C., Eggerding, F. A., Fung, S., Iovannisci, D.A., Woo, S., and Winn-Deen, E. S. (1994). High-density multiplex detection of nucleic acid sequences: Oligonucleotide ligation assay and sequence-coded separation. Nucleic Acids Res. 22:4527–4534.PubMedCrossRefGoogle Scholar
- Jou, C., Rhoads, J., Bouma, S., Ching, S. F., Hoijer, J., Schroeder-Poliak, P., Zaun, P., Smith, S., Richards, S., Caskey, C. T., and Gordon, J. (1995). Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology. Hum. Mutat. 5:86–93.PubMedCrossRefGoogle Scholar
- Leckie, G., Cao, J., Davis, A., Facey, I., Lin, B.-C, and Lee, H. (1994). Ligase chain reaction (LCR) DNA amplification for direct detection of Mycobacterium tuberculosis (MTB) in clinical specimens, in:Abstracts of the General Meeting of the American Society for Microbiology, 189.Google Scholar
- Lin, C. P., Goldbard, S., Grills, G., Sheridan, K., Waksal, H. W, Tackney, C., and Segev. D. (1991). Amplification and nonradioactive detection of the human papilloma virus 16 DNA by the repair chain reaction, in Abstracts of the Annual San Diego Conference on Nucleic Acids..Google Scholar
- Liu, M. S., Zang, J., Evangelista, R. A., Rampai, S., and Chen, F.-T. A. (1995). Double-stranded DNA analysis by capillary electrophoresis with laser-induced fluorescence using ethidium bromide as an intercalator. Bio-Techniques 18:316–323.Google Scholar
- Segev, D. (1992). Amplification of nucleic acid sequence by the repair chain reaction, in:Nonradioactive Labeling and Detection of Biomolecules (C. Kessler, ed.), Springer-Verlag, Berlin, pp. 212–218.Google Scholar
- Tavormina, P. L., Shiang, R., Thompson, L. M., Zhu, Y.-Z., Wilkin, D. J., Lachman, R. S., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., and Wasmuth, J. J. (1995). Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet. 9:321–328.PubMedCrossRefGoogle Scholar
- Wallace, R. B., Ugozzoli, L., Lowery, J., and Reyes, A. A. (1994). The application of LCR to neonatal testing of variant hemoglobin genes. Proceedings, 10th National Neonatal Screening Symposium, Seattle, Washington, pp. 127–130.Google Scholar