Genetic test for hereditary neuromuscular disease
US5185244A · kind A · utility
27Cited by
0References
36Claims
0Family size
Assignee
Inventor
Key dates
| Filing date | Dec 8, 1989 |
| Grant date | Feb 9, 1993 |
| Priority date | — |
| Expiry date | Dec 8, 2009 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10T436/143333
- WIPO fieldBiotechnology
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.