Journal of Hebei Medical University

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Analysis of common deafness genes in 60 patients with cochlear implantation

  

  1. 1.Department of Otolaryngology Head and Neck Surgery, the First Hospital of Shijiazhuang City, Hebei
    Province, Shijiazhuang 050011, China; 2.Department of Operating Room, the Thord Hospital of Hebei
    Medical University, Shijiazhuang 050051, China; 3.Department of Otolaryngology Head and Neck
    Surgery, the Second Hospital of Hebei Medical University,Shijiazhuang 050000, China
  • Online:2016-11-25 Published:2016-12-14

Abstract: [
Abstract ] Objective Toanalyzetheincidenceofhereditaryhearinglossinpatientswith
cochlearimplantation.Methods Usingpolymerasechainreactionandrestrictionenzymemethod ,
themutationsof235delC GJB2 , IVS7-2A>G PDSand mitochondrial12sRNA A1555G DAN
weredetectedin60patientswithcochlearhearingloss.Results Atotalof33patientswith
geneticmutationweredetectedin60cochlearimplantationpatients , andthetotalmutationrate
was55.0% , including : 235delC homozygous mutationin 6 cases ( 10.0% ), 7 cases with
heterozygous mutation ( 11.7% ); PDS genehomozygousIVS7-2A > G mutationin 6 cases
(
10.0% ), heterozygousmutationin12cases ( 20.0% ); DNA mitochondrial12sRNA A1555G
mutationpositivefor2cases ( 3.3% ) .Conclusion Themaincausesofthediseasearegenetic
factors , IVS7-2A>GgenePDS , followedbythe235delCgeneGJB2sitemutation.Somepatients
aremitochondrial12sRNAA1555GDANsitemutation.

Key words: deafness, cochlear implantation, genes, mutation