Methods for detecting rare polymorphic variants in genomic...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C536S023100, C536S024300

Reexamination Certificate

active

07094543

ABSTRACT:
Methods for detecting low frequency nuclear mutations in a target sequence from a genomic DNA sequence are disclosed.

REFERENCES:
patent: 5045450 (1991-09-01), Thilly et al.
patent: 5633129 (1997-05-01), Karger et al.
patent: 5639611 (1997-06-01), Wallace et al.
patent: 5837832 (1998-11-01), Chee et al.
patent: 5976842 (1999-11-01), Wurst
patent: 2003/0092021 (2003-05-01), Thilly
patent: WO 91/00925 (1991-01-01), None
patent: WO 95/21268 (1995-08-01), None
patent: WO 98/40404 (1998-09-01), None
patent: WO 00/34652 (2000-06-01), None
Bjørheim, J. et al., “Mutations analyses of KRAS exon 1 comparing three different techniques: temporal temperature gradient electrophoresis, constant denaturant capillary electrophoresis and allele specific polymerase chain reaction,”Mut. Res., 403:103-12 (1998).
Conneally, P., “Human Genetic Polymorphisms,”Dev. Biol. Stand., 83:107-110 (1994).
Cooper, D. and Krawczak, M., “The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions,”Hum. Genetics, 85:55-74 (1990).
Crow, J. and Denniston, C., “Mutation in Human Populations,”Adv. Hum. Genet., 14:59-77 (1985).
de la Chapelle, A., “Disease gene mapping in isolated human populations: the example of Finland,”J. Med. Genet., 30:857-865 (1993).
Ekstrøm, P. et al., “Detection of Low-Frequency Mutations in Exon 8 of the TP53 Gene by Constant Denaturant Capillary Electrophoresis (CDCE),”BioTechniques, 27:128-34 (1999).
Ekstrøm, P. et al., “Two-Point Fluorescence Detection and Automated Fraction Collection Applied to Constant Denaturant Capillary Electrophoresis,”BioTechniques, 29:582-4, 586-9 (2000).
Fält, S. et al., “Identification of in vivo mutations in exon 5 of the human HPRT gene in a set of pooled T-cell mutants by constant denaturant capillary electrophoresis (CDCE),”Mut. Res., 452:57-66 (2000).
Fischer, S. and Lerman, L., “Separation of random fragments of DNA according to properties of their sequences,”Proc. Natl. Acad. Sci USA, 77:4420-4424 (1980).
Galinsky, D. et al., “Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity,”Atherosclerosis, 129:177-183 (1997).
Gross, E. et al., “A comparison of BRCA 1 mutation analysis by direct sequencing, SSCP and DHPLC,”Hum. Genet., 105:72-78 (1999).
Hardelin, J. et al., “Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome,”Hum. Mol. Genetics, 2:373-377 (1993).
Herrero-Jimenez, P. et al., “Mutation, cell kinetics, and subpopulations at risk for colon cancer in the United States,”Mut. Res., 400:553-78 (1998).
Herrero-Jimenez, P. et al., “Population risk and physiological rate parameters for colon cancer. The union of an explicit model for carcinogenesis with the public health records of the United States,”Mut. Res., 447:73-116 (2000).
Hovig, E. et al., “Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutation detection,”Mut. Res., 262:63-71 (1991).
Kervinen, K. et al., “Apolipoprotein E and B polymorphisms—longevity factors assessed in nonagenarians,”Atherosclerosis, 105:89-95 (1994).
Khrapko, K. et al., “Identification of point mutations in mixtures by capillary electrophoresis hybridization,”Nucleic Acids Res., 26:5738-40 (1998).
Li-Sucholeiki, X. and Thilly, W., “A sensitive scanning technology for low frequency nuclear point mutations in human genomic DNA,”Nucleic Acids Res., 28:i-viii (2000).
Li-Sucholeiki, X. et al., “Applications of constant denaturant capillary electrophoresis / high-fidelity polymerase chain reaction to human genetic analysis,”Electrophoresis, 20:1224-32 (1999).
Margaglione, M. et al., “Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke,”Stroke, 29:399-403 (1998).
Muniappan, B. and Thilly, W., “Application of constant denaturant capillary electrophoresis (CDCE) to mutation detection in humans,”Genet. Anal., 14:221-7 (1999).
Tomita-Mitchell, A. et al., “Mismatch repair deficient human cells: spontaneous and MNNG-induced mutational spectra in the HPRT gene,”Mut. Res., 450:125-38 (2000).
Tomita-Mitchell, A. et al., “Single nucleotide polymorphism spectra in newborns and centenarians: identification of genes coding for rise of mortal disease,”Gene, 223:381-391 (1998).
Benzer, S. and Freese, E., “Induction of Specific Mutations with 5-Bromouracil,”Proc. Natl. Acad. Sci. USA, 44:112-119 (1958).
Cariello, N. et al., “Resolution of a Missense Mutant in Human Genomic DNA by Denaturing Gradient Gel Electrophoresis and Direct Sequencing Using In Vitro Amplification: HRPTMunich,”Am. J. Hum. Genet., 42:726-734, (1988).
Coller, H. et al., “Mutational Spectra of a 100-Base Pair Mitochondrial DNA Target Sequence in Bronchial Epithelial Cells: A Comparison of Smoking and Nonsmoking Twins1,”Cancer Res., 58:1268:1277 (1998).
Fischer, S. and Lerman, L., “DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory,”Proc. Natl. Acad. Sci. USA., 80:1579-1583 (1983).
Fuchs, R. et al., “Hot spots of frameshift mutations induced by the ultimate carcinogenN-acetoxy-N-2-acetylaminofluorene,”Nature, 294:657-659 (1981).
Harris, C., “p. 53: At the Crossroads of Molecular Carcinogenesis and Risk Assessment,”Science, 262:1980-1981 (1993).
Khrapko, K. et al., “Constant denaturant capillary electrophoresis (CDCE): a high resolution approach to mutations analysis,”Nucl. Acids Res., 22:364-369 (1994).
Khrapko, K. et al., “Mutational Spectrometry: Means and Ends,”Prog. Nucleic Acid Res. Mol. Biol., 49:285-311 (1994).
Khrapko, K. et al., “Mutational spectrometry without phenotypic selection: human mitochondrial DNA,”Nucl. Acids Res., 25:685-693 (1997).
Khrapko, K. et al., “Mitrochondrial mutational spectra in human cells and tissues,”Proc. Natl. Acad Sci. USA, 94:13798-13803 (1997).
Lerman, L. and Silverstein, K., “Computational Simulation of DNA Melting and Its Application to Denaturing Gradient Gel Electrophoresis,”Meth. Enzymol., 155:482-501 (1987).
Li, X.-C. and Thilly, W., “Use of wide-bore capillaries in constant denaturant capillary electrophoresis,”Electrophoresis, 17:1884-1889 (1996).
Marcelino, L. et al., “Chemically Induced Mutations in Mitochondrial DNA of Human Cells: Mutational Spectrum ofN-Methyl-N'-nitro-N-nitrosoguanidine1,”Cancer Res., 58:2857-2862 (1998).
Miller, J., “Mutational Specificity in Bacteria,”Annu. Rev. Genet., 17:215-238 (1983).
Miller, R. and Riblet, R., “Improved phenol emulsion DNA reassociation technique (PERT) using thermal cycling,”Nucl. Acids Res., 23:2339-2340 (1995).
Potten, C. and Loeffler, M., “Stem Cells: attributes, cycles, spirals, pitfalls and uncertainties. Lessons for and from the Crypt,”Dev., 110:1001-1020 (1990).
Robinson, D. et al., “An analysis of in vivohprtmutant frequency in circulating T-lymphocytes in the normal human population: a comparison for four datasets,”Mut. Res., 313:227-247 (1994).
Li-Sucholeiki, X-C. and Thilly, W., “A Sensitive scanning technology for low frequency nuclear point mutations in human genomic DNA,”Nuc. Acids Res.28:i-viii (2000).
Thilly, W., “Mutational Spectrometry in Animal Toxicity Testing,”Annu. Rev. Pharmacol. Toxicol., 30:369-385 (1990).
Paik, Y., et al., “Nucleotide Sequence and Structure of the Human Apolipoprotein E Gene,”Proc. Natl. Acad. Sci., USA82:3445-3449 (1985).
deKnijff, P., et al., “Genetic Heterogeneity of

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