title: Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
abstract: CONCLUSIONS
  The c.235delC of GJB2 gene is the hotspot mutation of the hearing loss population in the Silk Road region of China. It is high time that some active interventions (such as hearing aids or cochlear implant) are provided to improve their language ability and quality of life.
  
  
  OBJECTIVE
  The first gene to be identified for humans with nonsyndromic hearing loss was GJB2 gene. We investigated the prevalence of GJB2 mutations in the Silk Road region of China to study the mutation spectrum in this area.
  
  
  METHODS
  Bidirectional sequencing was carried out for all PCR products of samples. The statistical analysis was carried out using SAS 9.0.1 software.
  
  
  RESULTS
  Pathogenic mutations were identified in 243 of 2398 patients, including 168 homozygous mutations and 75 compound heterozygous mutations. Three variants (c.225G>T, c.521G>A, and c.557C>T) are novel mutations.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Second Hospital of Lanzhou University , Lanzhou , China.
authors.forename: Wan
authors.initials: W
authors.lastname: Du
authors.forename: Yi Ming
authors.initials: YM
authors.lastname: Zhu
authors.forename: Yu Fen
authors.initials: YF
authors.lastname: Guo
authors.forename: Qiu Ju
authors.initials: QJ
authors.lastname: Wang
authors.forename: Xiao Wen
authors.initials: XW
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA