title: [Analysis of deafness gene mutations by gene chip and its clinical significance].
abstract: OBJECTIVE
  To analyze deafness gene mutations by genechip.
  
  
  METHODS
  The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip.
  
  
  RESULTS
  Among 42 patients with non-syndromic hearing loss, GJB2 235delC was found in 11 cases (7 cases were homozygosis, 4 cases were heterozygosis); 4 cases were shown to carry the PDS IVS7-2A>G mutation.
  
  
  CONCLUSIONS
  The incidence of GJB2 gene and PDS IVS7-2A>G mutations among the deaf- mute children in Guiyang city is 38.10%. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.
authors.affiliation: Department of Clinical Laboratory, Guizhou Provincial People's Hospital, Guiyang, 550002, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Zhang
authors.forename: Yuqing
authors.initials: Y
authors.lastname: Liu
authors.forename: Youqin
authors.initials: Y
authors.lastname: Wang
authors.forename: Guifang
authors.initials: G
authors.lastname: Li
authors.forename: Zhenyuan
authors.initials: Z
authors.lastname: Luo
authors.forename: Peng fei
authors.initials: Pf
authors.lastname: Jiang
authors.forename: Fei
authors.initials: F
authors.lastname: Li
authors.forename: Shuhui
authors.initials: S
authors.lastname: Wang
authors.forename: Kaixian
authors.initials: K
authors.lastname: Deng
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D000076988:Sulfate Transporters; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26