Construction of a DNA Chip for Screening of Genetic Hearing Loss.
- Author:
Soo Young CHOI
1
;
Young Eun KIM
;
Dong bin AHN
;
Tae Hoon KIM
;
Jae Hyuk CHOI
;
Hye Ryung LEE
;
Sang Joon HWANG
;
Un Kyung KIM
;
Sang Heun LEE
Author Information
- Publication Type:Original Article
- Keywords: Hearing loss; DNA chip; Gene
- MeSH: DNA; DNA, Mitochondrial; Genes, rRNA; Genotype; Hearing; Hearing Loss; Humans; Korea; Mass Screening; Oligonucleotide Array Sequence Analysis; RNA, Ribosomal; Sensation Disorders; Sequence Analysis, DNA
- From:Clinical and Experimental Otorhinolaryngology 2009;2(1):44-47
- CountryRepublic of Korea
- Language:English
- 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.
