| Autor: |
Dong-ye, Chen, Xiao-wei, Chen, Ke-li, Cao, Xin, Jin, Jin, Zuo, Chao-gang, Wei, Fu-de, Fang |
| Rok vydání: |
2007 |
| Předmět: |
|
| Zdroj: |
Zhonghua yi xue za zhi. 86(44) |
| ISSN: |
0376-2491 |
| Popis: |
To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation.We enrolled 115 cochlear implant recipients for mutation screening. Genomic DNA was extracted from the blood of all patients, amplified in PCR and analyzed for single strand conformation polymorphism (SSCP) or direct sequencing to detect mutations of GJB2 gene.The result shows that the GJB2 mutations are detected in 36.5% (42/115) of the cochlear implant recipients, and especially 41% (41/100) of the non-syndromic deafness patients, only 1 inner ear malformation patient was detected with GJB2 mutations. This study found 11 different variations in the GJB2 gene. The 235delC mutation was the most prevalent mutation accounting for 18.3% (41/230) in all cochlear implant recipients and 21% (42/200) in non-syndromic deafness group. 187GT and 230GA mutations were novel mutation of GJB2 gene in the Chinese population.Mutations in the GJB2 gene were a major cause of deafness in cochlear implant recipients, the carrier frequency of 235delC mutation was highest. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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