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Updated: Mar 21, 2026
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
A Novel Method for Detection the Deafness-Associated Mitochondrial A1555G and C1494T Mutations
Background:
To develop a novel method for molecular detection of deafness-associated mitochondrial A1555G and C1494T mutations.
Methods:
We designed four primers that specifically bind to human mitochondrial 12S rRNA. PCR amplification of DNA samples including the A1555G, C1494T, and healthy controls is performed. The products are analyzed by the electrophoresis.
Results:
We found that the PCR products of DNA samples with A1555G mutation consisted of two specific bands: 226 bp and 736 bp. While amplification of DNA samples with the C1494T mutation resulted in two fragments: 488 bp and 736 bp.
Conclusions:
Our study establishes a convenient, accurate, and cost-effective method for molecular diagnosis of deafness-associated mitochondrial A1555G and C1494T mutations.
