B376 - Preventable Hearing Loss What is the Prevalence Penetrance and Phenotype of the Mitochondrial A1555G Mutation associated with Aminoglycoside-induced Hearing Loss - 25/06/2006

B number: 
Principal applicant name: 
Prof Maria Bitner-Glindzicz (University College London, UK)
S Rahman (Not used 0, Not used 0), Prof Marcus Pembrey (University of Bristol, UK)
Title of project: 
Preventable Hearing Loss: What is the Prevalence, Penetrance and Phenotype of the Mitochondrial A1555G Mutation, associated with Aminoglycoside-induced Hearing Loss?
Proposal summary: 

As suspected the prevalence of the m.1555Agreater than G mutation in the ALSPAC cohort was 1 in 540. This prevalence has potentially important implications for the use of aminoglycoside antibiotics in the UK. For this reason we wish to use the mothers of the ALSPAC children to validate the accuracy of the genotyping results.

Genotyping of both mothers and children provides internal quality control because this is a mitochondrial variant which is homoplasmic. So, any children who are positive for the mutation will have mothers who are postitive, and any children who are negative should not have a mother who is also negative.

Date proposal received: 
Sunday, 25 June, 2006
Date proposal approved: 
Sunday, 25 June, 2006
Genetics, Hearing
Primary keyword: