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
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
RNA, Ribosomal
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Connexins
/
Deafness
/
Asian People
/
Connexin 26
/
Genetics
Type of study:
Diagnostic study
/
Screening study
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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