title: [Mutation analysis of Cx26 gene in Chinese hereditary nonsyndromic deafness sufferers].
abstract: OBJECTIVE
  To analyze the mutations in the code region of Cx26 gene in Chinese hereditary nonsyndromic hearing impairment (NSHI) sufferers.
  
  
  METHODS
  Thirty-three cases (29 cases in the families of 8 students who were picked out from the Deafness and Muteness School of Tianjin, 2 cases as control and 2 normal cases of genetic counseling) were included in this study. The blood samples were obtained to distill the DNA templates. Using polymerase chain reaction (PCR), the code region of Cx26 gene was amplified. The mutations were screened by restriction endonucleases fingerprinting-single strand conformation polymorphism (REF-SSCP). Afterwards we inspected the polymorphous changes or mutations of these segments with DNA sequence.
  
  
  RESULTS
  There were 30 cases with the nucleotide changes in the Cx26 code region. The rate was 90.9% (30/33). Eight kinds of mutations were found, 79G-->A, 109G-->A, 161A-->T, 235delC, 240G-->A, 341A-->G, 571T-->C and 608T-->C. 161A-->T, 240G-->A and 571T-->C were detected primarily. There were 3 cases with 235delC in 22 deafness sufferers and the rate was 13.64% (3/22).
  
  
  CONCLUSIONS
  The 235delC of Cx26 gene is the main mutation in Chinese NSHI sufferers, and in NSHI cases many polymorphous changes exist.
authors.affiliation: Women's Health Institute of Tianjin, Tianjin 300204, China.
authors.forename: Yuefan
authors.initials: Y
authors.lastname: Xu
authors.forename: Lufeng
authors.initials: L
authors.lastname: Ren
authors.forename: Wenqin
authors.initials: W
authors.lastname: Song
authors.forename: Changjun
authors.initials: C
authors.lastname: Zhang
authors.forename: Yuanxu
authors.initials: Y
authors.lastname: Ma
authors.forename: Jinchun
authors.initials: J
authors.lastname: Li
authors.forename: Yanni
authors.initials: Y
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26