title: [Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince].
abstract: OBJECTIVE
  To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province.
  
  
  METHODS
  Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations.
  
  
  RESULTS
  Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
authors.forename: Shuixia
authors.initials: S
authors.lastname: Liu
authors.forename: Liang
authors.initials: L
authors.lastname: Xu
authors.forename: Bowen
authors.initials: B
authors.lastname: Chen
authors.forename: Min
authors.initials: M
authors.lastname: Liu
authors.forename: Shenghong
authors.initials: S
authors.lastname: Qu
authors.forename: Jianping
authors.initials: J
authors.lastname: Liang
authors.forename: Fengzhu
authors.initials: F
authors.lastname: Tang
authors.forename: Min
authors.initials: M
authors.lastname: Shi
authors.forename: Lu
authors.initials: L
authors.lastname: Peng
authors.forename: Yan
authors.initials: Y
authors.lastname: Jing
authors.forename: Fengti
authors.initials: F
authors.lastname: Li
authors.forename: Youqiong
authors.initials: Y
authors.lastname: Liang
mesh_terms: D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26