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Construction of a DNA Chip for Screening of Genetic Hearing Loss
Clinical and Experimental Otorhinolaryngology ; : 44-47, 2009.
Artigo em Inglês | WPRIM | ID: wpr-17154
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.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: DNA / DNA Mitocondrial / RNA Ribossômico / Programas de Rastreamento / Análise de Sequência de DNA / Transtornos de Sensação / Análise de Sequência com Séries de Oligonucleotídeos / Genes de RNAr / Genótipo / Audição Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Humanos País/Região como assunto: Ásia Idioma: Inglês Revista: Clinical and Experimental Otorhinolaryngology Ano de publicação: 2009 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: DNA / DNA Mitocondrial / RNA Ribossômico / Programas de Rastreamento / Análise de Sequência de DNA / Transtornos de Sensação / Análise de Sequência com Séries de Oligonucleotídeos / Genes de RNAr / Genótipo / Audição Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Humanos País/Região como assunto: Ásia Idioma: Inglês Revista: Clinical and Experimental Otorhinolaryngology Ano de publicação: 2009 Tipo de documento: Artigo