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.
Artículo
en Chino
| WPRIM
| ID: wpr-239509
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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
ARN Ribosómico
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
China
/
Conexinas
/
Sordera
/
Pueblo Asiatico
/
Conexina 26
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Adolescente
/
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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