Construction of a DNA Chip for Screening of Genetic Hearing Loss

다국어 초록 (Multilingual Abstract)

Objectives. Hearing loss is the most common sensory disorder in humans and genetic causes are estimated to cause more
than 50% of all incidents of congenital hearing loss. To develop an efficient method for a genetic diagnosis of hearing
loss, we have developed and validated a genetic hearing loss DNA chip that allows the simultaneous analysis of
7 different mutations in the GJB2, SLC26A4, and the mtDNA 12S rRNA genes in Koreans.
Methods. A genotyping microarray, based on the allele-specific primer extension (ASPE) method, was used and preliminary
validation was examined from the five patients and five controls that were already known their genotypes by
DNA sequencing analysis.
Results. The cutoff Genotyping index (GI) of genotyping for each mutation was set up and validated to discriminate among
the genotypes. The result of the DNA chip assay was identical to those of previous results.
Conclusion. We successfully designed the genetic hearing loss DNA chip for the first time in Korea and it would be useful
for a clinical genetic diagnosis of hearing loss. Further consideration will be needed in order to examine the accuracy
of this DNA chip with much larger patient sample numbers.

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