Sequence analysis of the whole mitochondrial genome and nuclear genes causing mitochondrial disorders.
The diagnosis of mitochondrial disorders has increased considerably over the past few years. However, the genetics are complex, as the causative mutations can be in either the mitochondrial or the nuclear genome. Identification of the molecular defects in the causative genes is the key to a definitive diagnosis of the disease. Here, we describe PCR-based sequence analysis of the entire mitochondrial genome and a group of nuclear genes known to cause mitochondrial disorders.
Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. meganl@bcm.edu
Megan L
ML
Landsverk
Megan E
ME
Cornwell
Meagan E
ME
Palculict
D002467:Cell Nucleus / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics / Q000302:isolation & purification; D004587:Electrophoresis, Agar Gel; D054629:Genome, Mitochondrial / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA / Q000379:methods*
D004272:DNA, Mitochondrial