Abstract
Molecular diagnostic test systems refer to techniques and laboratory protocols for detecting, identifying and amplifying nucleic acid sequences. By differentiating one sequence from another, even if they differ only by a single nucleotide base change, a wide range of clinically useful and scientifically valuable diagnostic information may be obtained. In the field of human diseases molecular diagnostics are applicable to infectious organisms, genetic and hereditary diseases, cell and tissue typing, and to genetic mutations, recombinants, duplications or rearrangements associated with various forms of cancer. Genomic matching between individuals has become practical and is used widely for parentage testing and for evidence in forensic and crime situations. In the future, individual DNA “fingerprints” may be deposited in data banks as sources of unique individual identification.
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References
Gillespie D, Spiegelman S. A quantitative assay for DNA hybrids with DNA immobilized on a membrane. J Mol Biol 1965;12:829–42.
Saike RK, Scharf S, Faloona F, et al. Enzymatic amplification of β-globulin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985;230:1350–4.
Erlich HA, Gelfand DH, Saiki RK. Specific DNA amplification. Nature 1988;331: 461–2.
Mullis KB, Faloona FA. Specific synthesis of DNA in vitro via a polymerase catalyzed chain reaction. Methods Enzyol 1987;155:335–50.
Erlich HA, Gelfand D, Sninsky JJ. Recent advances in the polymerase chain reaction. Science 1991;252:1643–50.
Saiki RK, Gelfand DH, Stoffel S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239:487–91.
Birkenmeyer LG, Mushahwar IK. DNA probe amplification methods. J Virol Meth 1991;35:117–26.
Backman K. Method for detecting a target nucleic acid sequence. European Patent Office — 320,308. Priority, December 11, 1987.
Backman K, Carrino JJ, Bond SB, Laffler TG. Improved method of amplifying target nucleic acids applicable to both polymerase and ligase reactions. European Patent Office-439.182A. Priority, January 26, 1990.
Guatelli JC, Whitfield KM, Kwoh DY, Barringer KJ, Richman DD, Gingeras TR. Isothermal in vitro amplification of nucleic acids by a multienzyme reaction modeled after retrovirus replication. Proc Natl Acad Sci USA 1990;87:1874–8.
Lizardi PM, Guerra CE, Lomeli H, Tussie-Luna I, Kramer FR. Exponential amplification of recombinant-RNA hybridization probes. Biotechnology 1988;61:1197–202.
Mifflin TE. Control of contamination associated with PCR and other amplification reactions. Clin Chem News 1992;18 No 8:8–15.
Kwok S, Higuchi R. Avoiding false positives with PCR. Nature 1985;318:69–73.
Landini MP, Trevisani B, Guan MX, Ripalti A, Lazzarotto T, LaPlaca M. A simple and rapid procedure for the direct detection of cytomegalovirus in urine samples. J Clin Lab Analysis 1990;4:161–4.
Gillespie DH. The state of the art of clinical gene diagnosis. J Clin Lab Analysis 1987;1:42–51.
Schlauder GG, Leverenz GJ, Mattsson L, Weiland O, Mushahwar IK. Detection of hepatitis C viral RNA by the polymerase chain reaction in serum of patients with post-transfusion non-A, non-B hepatitis. J Virol Med 1992;37:189–200.
Erhrlich H, Bugawan T, Begovich AB, et al. HLA-DR, DQ and DP typing using PCR amplification and immobilized probes. Eur J Immunogenetics 1991;18:33–55.
Jeffreys AJ, Wilson V, Thein SL. Hypervariable minisatellite regions in human DNA. Nature 1985;314:67–73.
Jeffreys AJ, Wilson V, Thein SL. Individual specific fingerprints of human DNA. Nature 1985;316:76–80.
Risch NJ, Devlin B. On the probability of matching DNA fingerprints. Science 1992; 255:717–20.
Walker RH (ed). Inclusion probabilities in parentage testing. International Conference on Parentage Testing. American Association of Blood Banks, Arlington VA 1993.
Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds). The metabolic basis of inherited disease (5th ed). McGraw-Hill, New York 1983:39–59.
Ellis R (ed). Inborn errors of metabolic diseases. Elsevier/North Holland, New York, Amsterdam, 1980.
Davies KE (ed). Human genetic diseases. A practical approach. IRL Press, Oxford, Washington 1986.
Land H, Parada LF, Weinberg RA. Cellular oncogenes and multistep carcinogenesis. Science 1983;222:771–5.
Nau MM, Brooks BJ, Battey J, et al. L-myc, a new myc-related gene amplified and expressed in human small lung cancer. Nature 1985;318:69–73.
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© 1993 Springer Science+Business Media Dordrecht
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Overby, L.R. (1993). New Applications of Molecular Diagnostics in Laboratory Test Systems. In: Sibinga, C.T.S., Das, P.C., The, T.H. (eds) Immunology and Blood Transfusion. Developments in Hematology and Immunology, vol 28. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-3094-7_20
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DOI: https://doi.org/10.1007/978-1-4615-3094-7_20
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