Genetic test for hereditary neuromuscular disease

Details Genetic test for hereditary neuromuscular disease Genetic test for hereditary neuromuscular disease

1989-12-08

1993-02-09

Moskowitz, Margaret

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 91, 436 63, 436 94, 436501, 536 231, 536 2431, C12Q 168, C12P 1934, G01N 3348, C07H 1512

Patent

active

051852446

ABSTRACT:
The present invention relates a method and manufacture for detecting neuromuscular disease, particularly Leber's hereditary optic neuropathy, by ascertaining whether a point mutation has occurred at the 11778 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 procedures, and differential PCR techniques.

REFERENCES:
Singh et al., The New England Journal of Medicine 320 (20):1300-1305 (may 18, 1989).
Wallace et al., Science 242:1427-1430 (Dec. 9, 1988).
Wallace et al., Am. J. Hum. Genet. 38:461-481, 1986.
Wallace, Somatic Cell & Mol. Genet. 12:41-49, 1986.
Wallace et al., Achievements and Perspectives of Mitochondrial Research, vol. 2:427-435, 1985.
Johnson et al., J. Mol. Evol. 19:255-271, 1983.
Blanc et al., Am. J. Hum. Genet. 35:167-176, 1983.
Wallace et al., Hum. Genet. 1681:145-147, 1982.
Denaro et al., Proc. Natl. Acad. Sci. 78:5768-5772, 1981.

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