title: GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
abstract: OBJECTIVE
  The GJB2 and MTRNR1 1555A>G mutations are the prevalent causes of hearing loss worldwide. However, the mutation profiles of the two genes are dependent on the ethnic or geographic origins. Therefore, this study was to characterize the forms and frequencies of the two genes in 813 students with hearing loss in Hubei province, Central China.
  
  
  METHODS
  Blood samples from 813 students were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes. The target fragments were amplified by polymerase chain reaction (PCR). Sequencing (or enzyme digestion) was applied to identify sequence variations.
  
  
  RESULTS
  Ten different mutations were identified in GJB2 in 146 of the 813 (17.96%) patients and 11.81% (96/813) patients had homoplasmic mtDNA 1555A>G mutation.
  
  
  CONCLUSIONS
  This study demonstrated the high prevalence of GJB2 and mtDNA 1555A>G mutations in Central Chinese population. Therefore, it will be effective to perform GJB2 and mtDNA 1555A>G mutation analysis for genetic screening for hearing loss in this population.
authors.affiliation: Department of Otolaryngology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
authors.forename: Guanming
authors.initials: G
authors.lastname: Chen
authors.forename: Fang
authors.initials: F
authors.lastname: He
authors.forename: Siqing
authors.initials: S
authors.lastname: Fu
authors.forename: Jiashu
authors.initials: J
authors.lastname: Dong
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D034381:Hearing Loss / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D013334:Students
chemical_list: D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D000072259:Connexin 26