Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province.
- VernacularTitle:山西省非综合征型耳聋患者常见耳聋基因的检测分析
- Author:
Yongan ZHOU
1
;
Huifang YANG
;
Ziqi HAO
;
Yunxia MA
;
Quanbin ZHANG
;
Jiao LI
;
Xiaoli ZHAO
;
Xiang WANG
;
Xiangshao LI
;
Li XIA
;
Siqi MA
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Asian Continental Ancestry Group; genetics; Base Sequence; Child; China; Connexin 26; Connexins; genetics; DNA Mutational Analysis; Deafness; genetics; Female; Humans; Male; Molecular Sequence Data; Mutation; RNA, Ribosomal; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2015;32(2):183-186
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.
METHODSPeripheral 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.
RESULTSFor 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%.
CONCLUSIONAnalysis 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.
