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Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced
B J Scrimshaw1, J M Faed, W P Tate
1Department of Pathology, Dunedin School of Medicine, University of Otago, New Zealand.
Abstract:
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).
Insights
A specific mitochondrial DNA mutation (1555 A to G) linked to hearing loss was detected in one of 206 individuals screened. This finding highlights the prevalence of the mutation associated with aminoglycoside-induced or idiopathic sensorineural deafness.
Area of Science:
- Genetics
- Molecular Biology
- Otolaryngology
Background:
- A mutation in the human mitochondrial 12s RNA gene at nucleotide 1555 (1555 A to G) is associated with irreversible hearing loss.
- This mutation confers susceptibility to aminoglycoside antibiotics and can cause profound sensorineural deafness even without antibiotic exposure.
Purpose of the Study:
- To describe a multiplex allele-specific PCR (AS-PCR) method for detecting the mitochondrial 1555 A to G mutation.
- To determine the prevalence of this mutation in an unrelated population from Otago, New Zealand.
Main Methods:
- Development and application of a multiplex allele-specific PCR (AS-PCR) assay.
- Screening of 206 unrelated individuals from Otago, New Zealand, for the mitochondrial 1555 A to G mutation.
Main Results:
- The multiplex AS-PCR approach successfully detected the target mutation.
- One individual (0.48%) out of 206 screened possessed the mitochondrial 1555 A to G mutation.
- The 95% confidence interval for the mutation prevalence was 0.01-2.75%.
Conclusions:
- The study successfully developed and applied an AS-PCR method for identifying the 1555 A to G mitochondrial DNA mutation.
- The prevalence of this mutation in the studied New Zealand population was found to be 0.48%.
- These findings contribute to understanding the genetic basis of hearing loss and antibiotic susceptibility.