Objective: To identify the relationship between the 1555G mutation in mitochondrial DNA and aminoglycoside antibiotic induced deafness and provide theoretical evidence for establishing diagnostic method.
Methods: Blood samples were obtained from three pedigrees with aminoglycoside antibiotic induced deafness. DNA was extracted from the isolated leukocytes. The mitochondrial DNA fragments were amplified by PCR, 1555G mutation was detected by Alw26 I restriction endonuclease digestion, allele-specific oligonucleotide hybridization and DNA sequencing.
Results: Seven individuals from pedigrees A and C carried homoplasmic 1555G mutation, six individuals from pedigree B did not have 1555G mutation.
Conclusion: 1555G mutation is not the only pathologic mitochondrial DNA mutation associated with aminoglycoside antibiotic induced deafness. This is the first finding of aminoglycoside antibiotic induced deafness pedigree without 1555G mutation.