Article
Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
Molecular vision - 1 Jan 2017
Martins Fábio Tadeu Arrojo, Miranda Paulo Maurício do Amor Divino, Fernandes Marcela Scabello Amaral, Maciel-Guerra Andréa Trevas, Sartorato Edi Lúcia
Abstract excerpt
PURPOSE: Leber hereditary optic neuropathy (LHON) is a mitochondrial inherited disease characterized by bilateral vision problems, such as reduced visual acuity, dyschromatopsia, and central or centrocecal scotoma. Of these cases, 95% are caused by three mutations in mitochondrial DNA (mtDNA): m.G11778A, followed by m.T14484C and m.G3460A. The remaining 5% of cases of LHON are caused by rare mutations also...
Topics
- Adolescent
- Adult
- Child
- DNA Mutational Analysis
- DNA, Mitochondrial
- Female
- Genotype
- Genotyping Techniques
- High-Throughput Nucleotide Sequencing
- Humans
- Hydrolysis
- Male
- Middle Aged