Analysis of deafness gene mutations by gene chip and its clinical significance.
- Author:
Hua ZHANG
1
;
Yuqing LIU
;
Youqin WANG
;
Guifang LI
;
Zhenyuan LUO
;
Peng fei JIANG
;
Fei LI
;
Shuhui WANG
;
Kaixian DENG
Author Information
1. Department of Clinical Laboratory, Guizhou Provincial People's Hospital, Guiyang, 550002, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Child;
Child, Preschool;
China;
Connexin 26;
Connexins;
genetics;
Deafness;
genetics;
Genetic Testing;
Humans;
Infant;
Membrane Transport Proteins;
genetics;
Mutation;
Oligonucleotide Array Sequence Analysis;
Sulfate Transporters;
Surveys and Questionnaires;
Young Adult
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2009;23(22):1032-1035
- CountryChina
- Language:Chinese
-
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.
