Article
Identification of point mutations by mispairing PCR as exemplified in MERRF disease.
Biochemical and biophysical research communications - 14 Dec 1990
Seibel P, Degoul F, Romero N, Marsac C, Kadenbach B
Abstract excerpt
The point mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA) from patients with myoclonic epilepsy and ragged red fibers (MERRF) was quantitatively analyzed after digestion with the restriction endonuclease Nae I of the PCR amplified DNA. Since the point mutation is not part of a restriction site for a commonly available restriction endonuclease, the Nae I restriction site was introduced by PCR using a...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- DNA, Mitochondrial
- Deoxyribonucleases, Type II Site-Specific
- Epilepsies, Myoclonic
- Female
- Humans
- Male
- Molecular Sequence Data