Methods of identifying point mutations in a genome

Details Methods of identifying point mutations in a genome Methods of identifying point mutations in a genome

2006-02-07

2006-02-07

Fredman, Jeffrey (Department: 1637)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S091200, C536S023100, C536S024300

Reexamination Certificate

active

06994962

ABSTRACT:
The invention relates to a method for identifying inherited point mutations in a targeted region of the genome in a large population of individuals and determining which inherited point mutations are deleterious, harmful or beneficial. Deleterious mutation are identified directly by a method of recognition using the set of point mutations observed in a large population of juveniles. Harmful mutations are identified by comparison of the set of point mutation observed in a large set of juveniles and a large set of aged individuals of the same population. Beneficial mutations are similarly identified.

REFERENCES:
patent: 5045450 (1991-09-01), Thilly et al.
patent: 5633129 (1997-05-01), Karger et al.
patent: 5837832 (1998-11-01), Chee et al.
patent: 5976842 (1999-11-01), Wurst
patent: 2002/0132244 (2002-09-01), Li-Sucholeiki
patent: 2003/0092021 (2003-05-01), Thilly
patent: 2003/0143584 (2003-07-01), Li-Sucholeiki
patent: WO91/00925 (1991-01-01), None
patent: WO95/21268 (1995-08-01), None
patent: WO 00/34652 (2000-06-01), None
Khrapko, K. et al., “Constant denaturant capillary electrophoresis (CDCE): a high resolution approach to mutational analysis”, Nucl. Acids Res. vol. 22, pp. 364-369 (1994).
Davies, K. E. et al., “Molecular Basis of Inherited Disease”, IRL Press, New York, pp, 21-25 (1992).
Crow, J.F. et al., “Mutation in Human Population”, Adv. Hum. Genet., vol. 14, pp. 59-77 (1985).
Conneally, P. M., “Human Genetic Polymorphisms”, Dev. Biol. Stand., vol. 83, pp. 107-110 (1994).
de la Chapelle, A., “Disease gene mapping in isolated human populations; the example of Finland”, J. Med. Genet., vol. 30, pp 857-865 (1993).
Cavalli-Sforza, L. L. et al. “The Genetics of Human Populations”, W. H. Freeman and Company, San Francisco, pp. 71-110 (1971).
Hardelin, J-P. et al., “Heterogeneity in the mutations responsible for X-chromosome linked Kallman syndrome”, Hum. Mol. Genetics, vol. 2, pp. 373-377 (1993).
Cooper, D. N. et al., “The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions”, Hum. Genetics, vol. 85, pp. 55-74 (1990).
Maraglione, M. et al., “Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke”, Stroke, vo 29, pp. 399-403 (Feb. 1998).
Paik, Y-K. et al., “Nucleotide sequence and structure of the human apolipoprotein E gene”, PNAS, vol. 82, pp. 3445-3449 (1985).
de Knijff, P. et al., “Genetic Heterogeneity of Apolipoprotein E and Its Influence on Plasma Lipid and Lipoprotein Levels”, Hum. Mut., pp. 178-194 (1994).
Bjorheim 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 (Jul. 1998).
Ekstrom P.O., et al., “Detection of low-frequency mutations in exon 8 of the TP53 gene by constant denaturant capillary electrophesis (CDCE) .”Biotechniques, 27:128-34 (Jul. 1999).
Ekstrom, P.O., et al., “Two-point fluorescence detection and automated fraction collection applied to constant denaturant capillary electrophoresis.”Biotechniques, 29:582-4, 586-9 (Sep. 2000).
Falt 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) .”Mutat. Res.,452:57-66 (Jul. 2000).
Fischer & Lerman, “Separation of random fragments of DNA according to properties of their sequences.”Proc. Natl. Acad. Sci. USA, 77:4420-4424 (1980).
Fischer & Lerman, “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).
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 et al., “A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC.”Hum. Genet.,105:72-78 (1999).
Herrero-Jimenez, P., et al., “Mutation, cell kinetics, and subpopulations at risk for colon cancer in the United States.”Mutat.Res.,400:553-78 (May 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 (Jan. 2000).
Hovig et al., “Constant denaturant gel electrophoresis, a modification of denaturing gradient gel electrophoresis, in mutations detection.”Mut. Res.,262:63-71 (1991).
Kervinen, K., et al., “Apolipoprotein E and B polymorphism: Longevity factors assessed in nonagenarians.”Atherosclerosis, 105:89-95 (1994).
Khrapko K., et al., “Mutational spectrometry without phenotypic selection:human mitochondrial DNA.”Nucleic Acids Res.,25:685-693 (1997).
Khrapko K., et al., “Identification of point mutations in mixtures by capillary electrophoresis hybridization.”Nucleic Acids Res.,26:5738-40 (Dec. 1998).
Li-Sucholeiki, X.C., et al., “Applications of constant denaturant capillary electrophoresis/high-fidelity polymerase chain reaction to human genetic analysis.”Electrophoresis, 20:1224-32 (Jun. 1999).
Li-Sucholeiki, X.C., et al., “A sensitive scanning technology for low frequency nuclear point mutations in human genomic DNA.”Nucleic Acids Res.,28:E44 (May 2000).
Muniappan, B.P., et al., “Application of constant denaturant capillary electrophoresis (CDCE) to mutation detection in humans.”Genet. Anal.14:221-7 (Feb. 1999).
Tomita-Mitchell, A., et al., “Mismatch repair deficient human cells: spontaneous and MNNG-induced mutational spectra in the HRPT gene.”Mut. Res.,450:125-38 (May 2000).
Tomita-Mitchell, A., et al., “Single nucleotide polymorphism spectra in newborns and centenarians: identification of genes coding for rise of mortal disease.”Gene223:381-391 (1998).
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: HPRTMunich,”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).
Harris, C., “p53: At the Crossroads of Molecular Carcinogenesis and Risk Assessment,”Science, 262:1980-1981 (1993).
Khrapko, K. et al., “Mitochondrial mutational spectra in human cells and tissues,”Proc. Natl. Acad. Sci. USA, 94:13798-13803 (1997).
Khrapko, K. et al., “Mutational Spectrometry: Means and Ends,”Prog. Nucleic Acid Res. Mol. Biol., 49:285-311 (1994).
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. and Thilly, W., “Use of wide-bore capillaries in constant denaturant capillary electrophoresis,”Electrophoresis, 17:1884-1889 (1996).
Li-Sucholeiki, X. and Thilly, W., “A sensitive scanning technology for low frequency nuclear point mutations in human genomic DNA,”Nuc. Acids Res., 28:i-viii (2000).
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).
Robinson, D. et al., “An analysis of in vivo hprt mutant frequency in circulating T-lymph

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