Construction of a DNA Chip for Screening of Genetic Hearing Loss
Clinical and Experimental Otorhinolaryngology
; : 44-47, 2009.
Article
de En
| WPRIM
| ID: wpr-17154
Bibliothèque responsable:
WPRO
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
ADN
/
ADN mitochondrial
/
ARN ribosomique
/
Dépistage de masse
/
Analyse de séquence d'ADN
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Troubles sensitifs
/
Séquençage par oligonucléotides en batterie
/
Gènes d'ARN ribosomique
/
Génotype
/
Ouïe
Type d'étude:
Diagnostic_studies
/
Screening_studies
Limites du sujet:
Humans
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Clinical and Experimental Otorhinolaryngology
Année:
2009
Type:
Article