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Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

1999; Springer Nature; Volume: 44; Issue: 6 Linguagem: Inglês

10.1007/s100380050184

1435-232X

B J Scrimshaw, James M. Faed, Warren P. Tate, Kankatsu Yun,

Genomics and Phylogenetic Studies

This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibiotics, and in some families is associated with profound sensorineural deafness in the absence of aminoglycoside antibiotics. We screened 206 unrelated individuals from the province of Otago, New Zealand, and found one who possessed the mitochondrial 1555 A to G mutation (0.48%; 95% confidence interval, 0.01-2.75).