title: [Rapid genetic diagnosis of patients with non-syndromic sensorineural hearing loss].
abstract: OBJECTIVE
  To evaluate the feasibility of a rapid genetic diagnosis technique in molecular genetics study of hearing loss.
  
  
  METHODS
  One hundred and ten subjects including 54 with moderate to profound non-syndromic sensorineural hearing loss were enrolled in this study. All with informed consents. Their peripheral blood samples were taken and tested using Hearing Loss Array Kit developed by Capital Bio. Nine hot mutation sites from 4 high risk genes were tested each.
  
  
  RESULTS
  The overall positive rate in this cohort was 50.9%, while the positive rate among 54 hearing loss cases was 59.3%. DNA sequence analysis showed 100% coincident with gene chip results.
  
  
  CONCLUSIONS
  This Hearing Loss Array Kit (gene chip) has a high positive detection ratio, its characteristics such as rapid high-flux sensitive and high specific make it possible and promising in future screening and diagnosis in patients with sensorineural hearing loss. Molecular genetic diagnosis also has a profound value in deafness prevention.
authors.affiliation: Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology-Head and Neck Surgery, Capital Medical University, Ministry of Education, Beijing, 100005, China. zhangweient@yahoo.com.cn
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Shusheng
authors.initials: S
authors.lastname: Gong
authors.forename: Lihui
authors.initials: L
authors.lastname: Huang
authors.forename: Bo
authors.initials: B
authors.lastname: Liu
authors.forename: Liping
authors.initials: L
authors.lastname: Zhao
mesh_terms: D002675:Child, Preschool; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D017422:Sequence Analysis, DNA