title: [Analysis and prenatal diagnosis of deafness-related gene mutations in patients with nonsyndromic hearing loss].
abstract: OBJECTIVE
  To analyze deaf-related genes in patients with nonsyndromic hearing loss (NSHL) and set up a prenatal diagnosis system for such patients.
  
  
  METHODS
  Nine NSHL families were collected. Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing. Maternal blood contamination was excluded prior to the testing.
  
  
  RESULTS
  Sixteen patients from 4 families were detected with GJB2 mutations, 8 patients from 2 families were found with SLC26A4 mutations, and 4 patients from 2 families were found with mutations in mtDNA. For 2 patients from one remaining family, no mutations were found with above genes.
  
  
  CONCLUSIONS
  A diagnostic system for NSHL has been established, which may provide a basis for prenatal diagnosis and genetic counseling to NSHL families.
authors.affiliation: Central Laboratory, Wenzhou Central Hospital, Wenzhou, Zhejiang 325000, P.R.China. 13676720736@126.com.
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.forename: Yunying
authors.initials: Y
authors.lastname: Chen
authors.forename: Yijian
authors.initials: Y
authors.lastname: Mao
authors.forename: Yi
authors.initials: Y
authors.lastname: Ding
authors.forename: Xueqin
authors.initials: X
authors.lastname: Xu
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D003638:Deafness / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012335:RNA, Ribosomal / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; 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