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[Analysis of deafness gene mutations by gene chip and its clinical significance]
Hua Zhang1, Yuqing Liu, Youqin Wang
1Department of Clinical Laboratory, Guizhou Provincial People's Hospital, Guiyang, 550002, China.
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.
