title: GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.
abstract: CONCLUSIONS
  In this cohort of 156 non-syndromic hearing-impaired subjects of Tengzhou area, the most common deafness-associated genes GJB2, SLC26A4 and mtDNA 12S rRNA were investigated by SNPscan efficiently. GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were the most common mutation sites.
  
  
  OBJECTIVE
  Until now, there is no systematic gentic analysis in patients with non-syndromic hearing loss for Tengzhou area, so we evaluated the molecular etiology to investigate the hot-sports.
  
  
  METHODS
  Peripheral blood samples were obtained from 156 patients with severe-to-profound non-syndromic deafness in Tengzhou. The SNP scan assay technique was performed for a rapid multiplex genetic screening to detect the 115 mutations of the most common three genes. All results were statistically analyzed with SPSS software.
  
  
  RESULTS
  Among the 156 analyzed patients, 60 patients were demonstrated with deafness genes, accounting for 38.46% (60/156), including GJB2 (22.44%, 35/156), SLC26A4 (13.66%, 22/156), and mtDNA 12S rRNA (2.56%, 4/156). In this study, we confirmed 23 deafness-causing mutations and 27 different allelic combinations including GJB2 (eight variants, 11 allelic combinations), SLC26A4 (13 variants, 16 allelic combinations) and mtDNA 12S rRNA (two variants). The occurrence rates of these deafness-causing mutations GJB2 c.235delC and SLC26A4 c.IVS7-2A > G were significantly higher than other mutation sites (p < 0.01).
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;|c Department of Otorhinolaryngology Head and Neck Surgery , Tengzhou Central People's Hospital , Shandong , PR China.
authors.forename: Yalin
authors.initials: Y
authors.lastname: Ma
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Yun
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Bai
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Fengguo
authors.initials: F
authors.lastname: Zhang
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Daogong
authors.initials: D
authors.lastname: Zhang
authors.affiliation: c Department of Otorhinolaryngology Head and Neck Surgery , Tengzhou Central People's Hospital , Shandong , PR China.
authors.forename: Xinmao
authors.initials: X
authors.lastname: Xu
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Lei
authors.initials: L
authors.lastname: Xu
authors.affiliation: a Department of Otorhinolaryngology Head and Neck Surgery , Shandong Provincial Hospital Affiliated to Shandong University , Jinan , PR China ;|b Shandong Provincial Key Laboratory of Otology , Jinan , PR China ;
authors.forename: Haibo
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012335:RNA, Ribosomal / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics*
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; C493230:SLC6A4 protein, human; D050486:Serotonin Plasma Membrane Transport Proteins; D000072259:Connexin 26
keywords: Genes testing; SNPscan; mutation spectrum; non-syndromic deafness