title: Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.
abstract: OBJECTIVE
  Mitochondrial DNA (mtDNA) mutation is an important cause of hearing impairment, but its prevalence in Taiwan is not clear. The purpose of this study is to identify mtDNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.
  
  
  METHODS
  During a period of 36 months, 10 families with non-syndromic hearing impairment were enrolled. Screening of mutations in the mtDNA, 12S rRNA, and tRNA(Ser) genes were carried out by polymerase chain reaction, restriction enzyme digestion, and direct sequencing.
  
  
  RESULTS
  Among the 10 families examined, four were found to have 1555A-->G mutation in the 12S rRNA gene, one had 7511T-->C mutation in the tRNA(Ser) gene, and one had 7444G-->A mutation of mtDNA.
  
  
  CONCLUSIONS
  Up to 60% of families had mtDNA mutations in this study. Therefore, mtDNA mutation seems to be an important cause of non-syndromic familial hearing impairment in Taiwan.
authors.affiliation: Department of Pediatrics, Buddhist Tzu-Chi General Hospital, Hualien, Taiwan.
authors.forename: Shao-Yin
authors.initials: SY
authors.lastname: Chu
authors.forename: Shu-Chuan
authors.initials: SC
authors.lastname: Chiang
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial