title: [Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province].
abstract: OBJECTIVE
  To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.
  
  
  METHODS
  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.
  
  
  RESULTS
  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%.
  
  
  CONCLUSIONS
  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.
authors: Department of Central Laboratory, Taiyuan Central Hospital, Taiyuan, Shanxi 030009, P.R. China. zya655903@163.com.
authors: Yongan
authors: Y
authors: Zhou
authors: Huifang
authors: H
authors: Yang
authors: Ziqi
authors: Z
authors: Hao
authors: Yunxia
authors: Y
authors: Ma
authors: Quanbin
authors: Q
authors: Zhang
authors: Jiao
authors: J
authors: Li
authors: Xiaoli
authors: X
authors: Zhao
authors: Xiang
authors: X
authors: Wang
authors: Xiangshao
authors: X
authors: Li
authors: Li
authors: L
authors: Xia
authors: Siqi
authors: S
authors: Ma
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26