Construction of a DNA chip for screening of genetic hearing loss.
OBJECTIVE
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.


CONCLUSIONS
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.
Choi
Soo-Young
SY
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Korea.
Kim
Young-Eun
YE
Ahn
Dong-Bin
DB
Kim
Tae-Hoon
TH
Choi
Jae-Hyuk
JH
Lee
Hye-Ryung
HR
Hwang
Sang-Joon
SJ
Kim
Un-Kyung
UK
Lee
Sang-Heun
SH