Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1990-06-14
1994-03-22
Varbrough, Amelia Burgess
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
436811, 536 2431, 935 78, C12Q 168
Patent
active
052963497
ABSTRACT:
The present invention relates to a method and manufacture for detecting neuromuscular disease, particularly Myoclonic Epilepsy and Ragged Red Fiber disease, by ascertaining whether a transition mutation has occurred at the 8344 nucleotide position in the mitochondrial DNA of a patient. The invention provides methods to detect this mutation including digestion of the patient's mtDNA with restriction endonucleases followed by analysis of the resulting fragments, differential hybridization of oligonucleotides, direct PCR sequencing and denaturing gradient gel electrophoresis.
REFERENCES:
patent: 4358535 (1982-11-01), Falkow et al.
patent: 4683202 (1987-07-01), Mullis
Wallace, "Human Genetic Disease Review," Jan. 1989, vol. 5, No. 1.
Saiki et al, Nature vol. 324, 13 (Nov. 1986), pp. 163-166.
Shoffner and Wallace, "Oxidative Phosphorylation Diseases," Advances in Human Genetics Chapter 5: 266-330, Harris and Hirschhorn, eds. (1990).
Shoffner et al., "Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy," Proc. Natl. Acad. Sci. USA 86:7952-7956 (1989).
Trounce et al., "Decline in Skeletal Muscle Mitochondrial Respiratory Chain Function: Possible Factor in Ageing," The Lancet 637-639 (1989).
Howell and Lee, "Sequence Analysis of Mouse Mitochondrial Chloramphenicol-Resistant Mutants," Somatic Cell and Molecular Genetics 15:237-244 (1989).
Wallace et al., "Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy," Science 242:1427-1430 (1988).
Innis et al., "DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA," Proc. Natl. Acad. Sci. USA 85:9436-9440 (1988).
Wallace et al., "Familial Mitochondrial Encephalomyopathy (MERRF): Genetic, Pathophysiological, and Biochemical Characterization of a Mitochondrial DNA Disease," Cell 5:601-610 (1988).
Farr et al., "Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes," Proc. Natl. Acad. Sci. USA 85:1629-1633 (1988).
Chomyn et al, "URF6, Last Unidentified Reading Frame of Human mtDNA, Codes for an NADH Dehydrogenase Subunit," Science 234:614-234 (1986).
Wallace, "Mitotic Segregation of Mitochondrial DNAs in Human Cell Hybrids and Expression of Chloramphenicol Resistance," Somatic Cell and Molecular Genetics 12:41-40 (1986).
Rosing et al., "Maternally Inherited Mitochondrial Myopathy and Myoclonic Epilepsy," Ann. Neurol. 17:228-237 (1985).
Wallace, "Cytoplasmic Inheritance of Chloramphenicol Resistance in Mammalian Cells," Techniques in Somatic Cell Genetics 159-187, J. W. Shy, ed. (1982).
Anderson et al., "Complete Sequence of Bovine Mitochondrial DNA, Conserved Features of the Mammalian Mitochondrial Genome," J. Mol. Biol. 156:683-717 (1982).
Bibb et al., "Sequence and Gene Organization of Mouse Mitochondrial DNA," Cell 26:167-180 (1981).
Anderson et al., "Sequence and organization of the human mitochondrial genome," Nature 290:457-465 (1981).
Gusella et al., "A polymorphic DNA marker genetically liked to Huntington's disease," Nature 306:234-238 (1983).
Laird, Charles D., "Proposed genetic basis of Huntington's Disease," Trends in Genetics 6:242-247 (1990).
Emory University
Varbrough Amelia Burgess
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