Article
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
Human mutation - 1 Nov 2011
Yarham John W, Al-Dosary Mazhor, Blakely Emma L, Alston Charlotte L, Taylor Robert W, Elson Joanna L, McFarland Robert
Abstract excerpt
Distinguishing pathogenic from polymorphic changes poses significant problems for geneticists and despite 30 years of postgenomic experience this remains the case in mitochondrial genetics. Base substitutions in mitochondrial tRNA (mt-tRNA) genes are particularly difficult, but important, because they are common causes of pathology and associated with high rates of transmission. Providing accurate genetic advice...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Databases, Genetic
- Female
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation