Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy.

Abstract excerpt

Mitochondrial DNA analyses were carried out on 30 individuals with clinically documented or suspected Leber's hereditary optic neuropathy (LHON). Three methods based on the polymerase chain reaction (PCR) were compared, all three aiming at detecting the G/C to A/T mutation of base pair 11,778 cau...

Topics

• Base Sequence
• DNA Mutational Analysis
• DNA, Mitochondrial
• Humans
• Molecular Sequence Data
• Mutation
• Optic Atrophies, Hereditary
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length