title: [Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province].
abstract: OBJECTIVE
  To preliminarily determine the gene mutation frequency and the hotspots in Henan province, we analysed the deafness-related gene mutation in patients with non-syndromic hearing loss (NSHL).
  
  
  METHODS
  Genomic DNA samples of 100 patients with NSHL in Henan province were extracted from peripheral blood after clinical history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted.
  
  
  RESULTS
  Among 100 patients with NSHL. the gene mutation frequency was 44%. In these patients, 29 cases had GJB2 mutations, 13 cases had SLC26A4 gene mutations, and 3 cases had mitochondrial 12SrRNA mutations.
  
  
  CONCLUSIONS
  Among the patients with NSHL in Henan province, the most frequent mutation causing hereditary deafness was mutation in GJB2, followed by SLC26A4,and it will provide a theoretical basis to determine the etiology of deafness in Henan Province.
authors.forename: Aili
authors.initials: A
authors.lastname: Yang
authors.forename: Manying
authors.initials: M
authors.lastname: Geng
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Guo
authors.forename: Jianfen
authors.initials: J
authors.lastname: Tang
authors.forename: Fugen
authors.initials: F
authors.lastname: Han
mesh_terms: D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics; D000076988:Sulfate Transporters
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; 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