Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1996-05-13
1998-09-22
Degen, Nancy
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 5, 435 34, 4351721, 4351723, 435820, C12Q 168, C12Q 104, C12N 1501
Patent
active
058112391
ABSTRACT:
The present invention describes a method for the detection of single base-pair DNA sequence variation in DNA samples isolated from cells with limited ploidy (1.sup..about. 3N). The method can detect variation essentially anywhere in the genome. The method comprises identifying single base-pair polymorphisms or mutations by amplifying a specific region of genomic DNA using a polymerase chain reaction, denaturation of the resultant chains followed by renaturation to form a heteroduplex or hybrid DNA molecule containing one or more single base-pair mismatches. The heteroduplex is then digested with S1 nuclease and the products separated by size with detection by Southern Blot, the use of labeled primers or sensitive gel staining. The method should be generally useful as a simplified approach to identify DNA sequence variants in a variety of samples. It also provides a potentially powerful approach to genetic mapping, DNA fingerprinting, disease detection, and population genetics.
REFERENCES:
patent: 4683202 (1987-07-01), Mullis
patent: 5075217 (1991-12-01), Webor
patent: 5126239 (1992-06-01), Livak
patent: 5192659 (1993-03-01), Simons
Ma et al., "Improved Quantification w/ Validation of Multiple mRNA Species by Polymerase Chain Reaction" Cardiovascular Res. vol. 28 464-471, 1994.
Sugano et al. "Rapid & Simple Detection of c-ki-ras 2 Gene Coding Mutations . . . " Lab. Invest. 68(3) 361-366, 1993.
Limon et al. "Presentation of a PCD-Nuclease Protection Strategy . . . " Leukemia 9 656-661, 1995.
Tanaka-Yamamoto et al. "Specific Amplification of Deleted Mitochondrial DNA from a Myopathic Patient . . . " 1009 151-155 Biochim Biophys Acta, 1989.
Shenk et al Biochemical Method for Mapping Mutational PNAS Alterations in DNA with Sl Nuclease: The Location of Deletions & TS Mutations in SU40 vol. 72 989-993, 1975.
Dodgson & Wells Action of Single-Strand Specific Nucleases on Model DNA Heteroduplexes of Defined Size & Sequence Biochemistry vol. 16 2374-2379, 1977.
Meyers et al Detection of Single Base Substitutions in Total Genomic DNA Nature vol. 313 495-496, 1985.
Mashal et al "Detection of Mutations by Cleavase of DNA Heteroduplexes with Bacteriophage Resoluases" Nature Genetics vol. 9 180 (177-183), 1995.
Yovil et al "Screening for Mutations by Enzyme Mismatch Cleavase with T4 Endonuclease" PNAS vol. 92 87-91, 1995.
Eng & Vijg "Genetic Testing: The Problems and the Promis" in Nature Biotechnology vol. 15 422-426, 1997.
Wagner et al "Mutation Detection Using Immobilized Mismatch Binding Protein (MUTS)" Nucleic Acids Res. vol. 23 3944-3948, 1995.
Genecheck Trade Literature Indicating Size Dependence 100-300 Base Pairs for Muts 400 E. Horsetooth Fort Collins CO 80525, 1996.
Meyers et al "Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA Duplexes" Science vol. 230 1242-1246, 1985.
Hofker et al The X Chromosome Shows Less Genetic Variation at Restriction Sites than the Autosomes Am J. Hum. Genet. vol. 39:438-437, 1986.
Rowen et al "The Complete 685-Kilobase DNA Sequence of the Human BT Cell Receptor Locus" Science 272: 1755-1762, 1996.
Risch "Linkage Strategies for Genetically Complex Traits, II The Power of Affected Relative Pairs" Am J. Hum. Genetics 46: 229-241, 1990.
Risch Linkage Strategies for Genetically Complex Traits. III The Effect of Marker of Affected Relative Pairs Polymorphism or Analysis Am J. Hum. Genetic 46:242-253, 1990.
Risch & Merikanses "The Future of Genetic Studies of Complex Human Diseases" Science 273:1516-1517, 1996.
Scott et al., Bell & Taylor; Long et al; Muller-Myhsok & Abel; Risch & Merikangas Science 275:1327-1330, 1997.
"Genetic Analysis of Complex Diseases".
Roberts et al "Detection of Novel Genetic Markers by Mismatch Analysis" Nuc. Acids Res. vol. 17 5961-71, 1989.
Wang et al Toward a Third Generation Genetic Map at the Human Genome Based on Bi-Allelic Polymorphisms Society of Human Genetics 46th Conference Abstract A3:4, 1996.
Research Genetics Trade Literature Pertaining to Heterozygosity of Microsatellites.
Berk & Sharp "Sizing & Mapping of Early Cell Adenovirus mRNAs by Gel Electrophoresis of SI Endonuclease-Digested Htbrids" vol. 12:721-731, 1977 .
Degen Nancy
Frayne Consultants
LandOfFree
Method for single base-pair DNA sequence variation detection does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Method for single base-pair DNA sequence variation detection, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Method for single base-pair DNA sequence variation detection will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-1620982