JMD Association for Molecular Pathology 2008 Annual Meeting
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JMD 2006, Vol. 8, No. 4
Copyright © 2006 American Society for Investigative Pathology & Association for Molecular Pathology

Detection of Mutations in Genes Associated with Hearing Loss Using a Microarray-Based Approach

Kirby Siemering*, Shehnaaz S.M. Manji*, Wendy M. Hutchison*, Desiree Du Sart*, Dean Phelan* and Hans-Henrik M. Dahl*{dagger}

From the Murdoch Childrens Research Institute * and the Department of Paediatrics, {dagger} University of Melbourne, Royal Children’s Hospital, Parkville, Victoria, Australia

Knowing the etiology of hearing loss in a person has implications for counseling and management of the condition. More than 50% of cases of early onset, nonsyndromic sensorineural hearing loss are attributable to genetic factors. However, deafness is a genetically heterogeneous condition and it is therefore currently not economically and practically feasible to screen for mutations in all known deafness genes. We have developed a microarray-based hybridization biochip assay for the detection of known mutations. The current version of the hearing loss biochip detects nine common mutations in the connexin 26 gene, four mutations in the pendrin gene, one mutation in the usherin gene, and one mutation in mitochondrial DNA. The biochip was validated using DNA from 250 people with apparent nonsyndromic, moderate to profound sensorineural hearing loss. The hearing loss biochip detected with 100% accuracy the mutations it was designed for. No false-positives or false-negative results were seen. The biochip can easily be expanded to test for additional mutations in genes associated with hearing impairment or other genetic conditions.






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Copyright © 2006 by the American Society for Investigative Pathology and the Association for Molecular Pathology.