Analysis of deafness gene mutations by gene chip and its clinical significance / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(24): 1032-1035, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-746677
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Membrane Transport Proteins
/
China
/
Genetic Testing
/
Surveys and Questionnaires
/
Connexins
/
Oligonucleotide Array Sequence Analysis
/
Deafness
/
Connexin 26
/
Sulfate Transporters
/
Genetics
Limits:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Year:
2009
Type:
Article
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