Article
Restriction fragment analysis as a source of error in detection of heteroplasmic mtDNA mutations.
Mutation research - 1 Aug 1999
Finnilä S, Hassinen I E, Majamaa K
Abstract excerpt
The transition from A to G at nt 5656 (5656A-->G) in mitochondrial DNA has been suggested to be a pathogenic mutation and, furthermore, a heteroplasmic one. We found that the mutation was present in 14 out of 83 healthy controls from northern Finland and that 5656A-->G was exclusively associated with mtDNA haplogroup U. Interestingly, 5656A-->G appeared to be heteroplasmic in NheI digestion of PCR fragments that...
Topics
- DNA
- DNA Restriction Enzymes
- DNA, Mitochondrial
- Deoxyribonucleases, Type II Site-Specific
- False Positive Reactions
- Haplotypes
- Humans
- Mutation
- Point Mutation
- Polymorphism, Genetic
- Sodium Chloride