Article
High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.
Biochemical and biophysical research communications - 12 Jan 2007
Bandelt Hans-Jürgen, Yao Yong-Gang, Salas Antonio, Kivisild Toomas, Bravi Claudio M
Abstract excerpt
For identifying mutation(s) that are potentially pathogenic it is essential to determine the entire mitochondrial DNA (mtDNA) sequences from patients suffering from a particular mitochondrial disease, such as Leber hereditary optic neuropathy (LHON). However, such sequencing efforts can, in the worst case, be riddled with errors by imposing phantom mutations or misreporting variant nucleotides, and moreover, by...
Topics
- Artifacts
- DNA Mutational Analysis
- DNA, Mitochondrial
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Humans
- Mutation
- Optic Atrophy, Hereditary, Leber
- Penetrance
- Quality Assurance, Health Care
- Reproducibility of Results
- Sensitivity and Specificity