Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1994-07-08
1996-08-13
Zitomer, Stephanie W.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 5, 435 912, 435 71, 435 79, 536 243, 536 2432, 536 2433, 5303881, C12Q 168, C12Q 170, C12P 1934, C07H 2104
Patent
active
055455271
ABSTRACT:
A hierarchy of at least two assay techniques is utilized in testing for disease-associated mutations. The first assay in the hierarchy is selected to provide a highly specific test for the existence of the disease-associated mutation, although the accuracy of the test need not be high. The final assay in the hierarchy is selected to provide a highly accurate and highly specific test for the existence of the disease associated mutation. Intermediate tests of progressively greater accuracy may also be included in the hierarchy. Once the hierarchy has been selected for a given mutation-associated disease, a patient sample is analyzed the patient sample using the first, lowest accuracy assay in the hierarchy. If the result of the first assay is negative for the presence of a disease-associated mutation, then the next assay in the hierarchy is performed. This process is repeated until the final assay has been performed on all samples which gave negative results when tested by all less-accurate assays in the hierarchy. The test may be used for diagnosis and targeted screening for p53 mutations and mutations in the RB1 gene.
REFERENCES:
patent: 4016043 (1977-04-01), Schuurs et al.
patent: 4172124 (1979-10-01), Koprowski
patent: 4474893 (1984-10-01), Reading
patent: 4563419 (1986-01-01), Ranki et al.
patent: 4582788 (1986-04-01), Erlich
patent: 4683194 (1987-07-01), Saiki et al.
patent: 4811218 (1989-03-01), Hunkapiller et al.
patent: 4823007 (1989-04-01), Hanson
patent: 4879214 (1989-11-01), Kornher et al.
patent: 4971903 (1990-11-01), Hyman
patent: 5062942 (1991-11-01), Kambara et al.
patent: 5091652 (1992-02-01), Mathies et al.
patent: 5119316 (1992-06-01), Dam et al.
patent: 5122345 (1992-06-01), Tabor et al.
patent: 5137806 (1992-08-01), LeMaistre et al.
patent: 5227292 (1993-07-01), White et al.
patent: 5236838 (1993-08-01), Rasmussen
patent: 5266459 (1993-11-01), Beutler
Rychlik, W., "Selection of Primers for Polymerase Chain Reaction ", Methods in Molecular Biology, vol. 15: PCR Protocols: Current Methods and Applications, pp. 31-40 (1993).
Dunn, et al., "Mutations in the RB1 Gene and Their Effects on Transcription",Molecular and Cellular Biology 9: 4596-4604 (1989).
Dunn, et al., "Identification of Germline and Somatic Mutations Affecting the Retinoblastoma Gene", Science 241: 1797-1800 (1988).
Orita, et al., "Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms", Proc. Nat'l. Acad. Sci. USA 86:2766-2770 (1989).
Savard-McQuigge et al., Your Child has Retinoblastoma, Canadian Cancer Society (1992), pp. 1-35.
Bull et al., "Rapid Misdiagnosis by Mycobacterium avium-intracellulare masquerading as tuberculosis in PCR/DNA probe tests", The Lancet 340: 1360 (1992).
Chamberlain, J. et al. "Detection of gene deletions using multiplex polymerase chain reactions." Human Molecular Genetics, Chapter 25, pp. 299-312, 1991.
Runnebaum, et al. "Mutations in p. 53 as potential molecular markers for human breast cancer" Proc. Natl. Acad. Sci. USA, vol. 88 12/91 pp. 10657-61, 1991.
Dunn et al., "Sequence based diagnosis of Retinoblastoma", Keystone Symposium on Tumor Suprresor Genes, Taos, New Mexico, Feb. 13-20, 1994, J. Cellular Biochem Supp 18c: p. 199 (1994).
McConkey, In Human Genetics: The Molecular Revolution, edited by Jones and Bontlett, 1993, pp. 192-197.
Lambkin et al., "Variations in Immunohistochemical Detection of p. 53 Protein Overexpression in Cervical Carcinomas with Different Antibodies and Methods of Detection", J. Pathology 172:13-18 (1994).
Baas, et al. "An Evaluation of Six Antiboides for Immunohistochemistry of Mutant p. 53 Gene Product in Archival Colorectal Neoplasms", J. Pathology 172: 5-12 (1994).
Hall et al., "p. 53 in Tumor Pathology: Can We Trust Immunohistochemistry--Revisited?", J. Pathology 172:1-4 (1994).
Beebe et al., "Incidence of Neisseria gonorrhoeae Isolates Negative by Syva Direct Fluoresecent-Antibody Test but Positive by Gen-Probe Accuprobe Test in a Sexually Transmitted Disease Clninc Population", J. Clin. Microbiol. 31: 2535-2537 (1993).
Bignon et al., "Expression of a retinpblastoma transgene in dwarf mice", Genes & Devel. 7: 1654-1662 ( 1993).
Breslauer et al., "Predicting DNA Duplex Stability from the Base Sequence", Proc. Nat'l Acad. Sci. 83: 3746-3750 (1986).
Eisenstein, B. I., "The Polymerase Chain Reaction", N. Engl. J. Med. 322: 178-183 (1990).
Erickson, D., "Diagnosis by DNA", Scientific American 267: 116 (1992).
Ewanowich, et al., "Major Outbreak of Pertussis in Northern Alberta, Canada: Analysis of Discrepant Direct Fluoresent-Antibody and Culture Results by Using Polymerase ChainReaction Methodology", J. Clin. Microbiol. 31: 1715-1725 (1993).
Hatcher et al., "Heteroduplex Formation: A Potential Source of Genotyping Error from PCR Products", Prenatal Diagnosis 13: 171-177 (1993).
Lee et al., "The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity", nature 329: 642-645 (1987).
Roberts et al., "Direct Diagnosis of carriers of Duchene and Becker musclular dystrophy by amplification of lymphocyte RNA", The Lancet 336: 1523-1526 (1990).
Warren et al., "Comparative Evaluation of Detection Assays for Chlamydia trachomatis", J. Clin. Microbiol. 31: 1663-1666 (1993).
Kohler et al. Society for Gynecological Oncologists 23rd Annual Meeting, Mar. 15-18, p. 40.
Angelopoulou et al., The Cancer J. 6: 315-321.
Anderson et al. Anal. Chem 67: 377R-524R.
Landegran et al. Science 242: 229-237.
Goldberg and Diamandis, Clin Chem 39: 2360-2374.
Dunn James M.
Stevens John K.
Rees Dianne
Visible Genetics Inc.
Zitomer Stephanie W.
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