title: [Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].
abstract: OBJECTIVE
  To screen for genetic mutations in families featuring non-syndromic hearing loss.
  
  
  METHODS
  Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire. Audiological and neurological examinations were conducted for all families. Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.
  
  
  RESULTS
  Of the 17 patients with sensorineural hearing loss, 3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation, 1 was 235 delC+299_300 delAT compound heterozygous mutation, and 6 were 79G>A+341G>A heterozygosis in cis mutation. No 1555A>G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.
  
  
  CONCLUSIONS
  The incidence of mtDNA 12S rRNA 1555A>G mutation in Jiangsu province may be lower than the average across China. Mutations of GJB2 genes may account for as much as 64.7% of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.
authors.affiliation: Nanjing Medical University, Suzhou, Jiangsu, People's Republic of China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Hong-bo
authors.initials: HB
authors.lastname: Cheng
authors.forename: Nian
authors.initials: N
authors.lastname: Yang
authors.forename: Yi-chao
authors.initials: YC
authors.lastname: Shi
authors.forename: Jin-zhi
authors.initials: JZ
authors.lastname: Liu
authors.forename: Qin
authors.initials: Q
authors.lastname: Li
authors.forename: Shen-min
authors.initials: SM
authors.lastname: Yang
authors.forename: Li-yan
authors.initials: LY
authors.lastname: Shen
authors.forename: Min-juan
authors.initials: MJ
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Hong
authors.initials: H
authors.lastname: Li
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D034381:Hearing Loss / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012335:RNA, Ribosomal / Q000235:genetics*
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26