Article
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness.
Pharmacogenetics - 1 Jun 1995
Bacino C, Prezant T R, Bu X, Fournier P, Fischel-Ghodsian N
Abstract excerpt
Aminoglycoside induced deafness has been linked recently to a predisposing homoplasmic mutation in the 3' end of the small ribosomal RNA (rRNA) gene of the human mitochondria (1555 A-->G) that makes the mitochondrial rRNA structurally more similar to its bacterial counterpart. This mitochondrial DNA mutation was consistently found in families in which the susceptibility to develop ototoxic deafness was inherited...
Topics
- Aminoglycosides
- Base Sequence
- DNA Mutational Analysis
- Deafness
- Genetic Predisposition to Disease
- Humans
- Mitochondria
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Oligonucleotide Probes