Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 183-186, 2015.
Article
em Zh
| WPRIM
| ID: wpr-239509
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.</p><p><b>METHODS</b>Peripheral blood samples were collected from regional schools for children with deafness. The samples were analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, and the results were verified by DNA sequencing.</p><p><b>RESULTS</b>For all samples, the 20 mutational sites of the 4 common causative genes were tested. As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%). c.IVS7-2A>G of SLC26A (PDS) gene has a mutation rate of 17.67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%.</p><p><b>CONCLUSION</b>Analysis of mutations of the 4 common deafness-related genes can facilitate early diagnosis and treatment for the disease. Matrix-assisted laser desorption ionization time of flight mass spectrometry is a reliable method for such a task.</p>
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Índice:
WPRIM
Assunto principal:
RNA Ribossômico
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Análise Mutacional de DNA
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Dados de Sequência Molecular
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Sequência de Bases
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China
/
Conexinas
/
Surdez
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Povo Asiático
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Conexina 26
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Genética
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Adolescent
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Child
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Article