Analysis of deafness gene mutations by gene chip and its clinical significance / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To analyze deafness gene mutations by genechip.@*METHOD@#The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip.@*RESULT@#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.@*CONCLUSION@#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.