[Analysis of deafness gene mutations by gene chip and its clinical significance].
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.
Zhang
Hua
H
Department of Clinical Laboratory, Guizhou Provincial People's Hospital, Guiyang, 550002, China.
Liu
Yuqing
Y
Wang
Youqin
Y
Li
Guifang
G
Luo
Zhenyuan
Z
Jiang
Peng fei
Pf
Li
Fei
F
Wang
Shuhui
S
Deng
Kaixian
K
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
D017630:Connexins; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26