title: [Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment].
abstract: OBJECTIVE
  To screen and identify the frequency and characteristic of mutation in stereocilium-related gene Taperin of Chinese prelingual nonsyndromic hearing impairment with DNA microarray combined with PCR.
  
  
  METHODS
  One hundred and thirty-four patients of prelingual nonsyndromic deafness and one hundred health individuals in China were investigated in this study. Genomic DNA was extracted from the patients and was subjected to DNA microarray to screen mutations in 4 most common genes. The samples that carried none of the common mutant alleles were subjected to PCR and sequenced to detect mutations in Taperin gene.
  
  
  RESULTS
  Ninteen out of one hundred and thirty-four patients of prelingual nonsyndromic deafness were detected carring common deafness gene with DNA microarray. Taperin gene were detected in one hundred and fifteen patients with PCR. A187S was detected in Taperin as hetrozygous state in 2 patients and their unaffected members of their family. It occurred at the evolutionary conservation of the amino acids of taperin according to alignment analysis. Two polymorphism, 157C>T and 318C>T, were found in the patients and the control group.
  
  
  CONCLUSIONS
  A novel Taperin mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss, which may be relevant to hearing loss. Two polymorphism, 157C>T and 318C>T, were found in Chinese in our research. The carrier frequency for Taperin mutation is about 1.74% of prelingual nonsyndromic deafness in Chinese patients.
authors.forename: Qin
authors.initials: Q
authors.lastname: Wang
authors.forename: Zhiying
authors.initials: Z
authors.lastname: Nie
authors.forename: Yan
authors.initials: Y
authors.lastname: Ding
authors.forename: Jie
authors.initials: J
authors.lastname: Qing
authors.forename: Ruosha
authors.initials: R
authors.lastname: Lai
authors.forename: Dinghua
authors.initials: D
authors.lastname: Xie
authors.forename: Peng
authors.initials: P
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002681:China; D003638:Deafness / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: D011506:Proteins; C548551:TPRN protein, human