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《Journal of Audiology and Speech Pathology》 2006-02
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Specificity of SLC26A4 Mutations in Chinese Patients with Enlarged Vestibular Aqueduct

Zhao Yali,Li Qingzhong,Zhai Suoqiang,et al. (Department of Otolaryngology and Head & Neck Surgery,Otolaryngology Institute of Chinese PLA General Hospital,Beijing,100853,China)  
Objective To investigate the contribution of SLC26A4 mutation to the Chinese patients with enlarged vestibular aqueduct(EVA) for the purpose of collection basic information for clinical application and screening.Methods A total of 38 nuclear families with EVA participated in the current study. The genomic DNA was exatracted from peripheral blood. All 21 exons of the SLC26A4 gene were amplified by intronic polymerase chain reaction(PCR), then the PCR products were purified and directly sequenced. The sequences were analysed with DNAStar or Bioedit.Results In the present study, causative mutations were identified in 35 families. A total of 12 pathologic mutations were detected with 6 novel mutations( data unpublished) and 6 mutations being IVS7-2AG,L676Q,H723R,IVS15+5GA,R409H and M147V. In these mutations, the most common mutation was IVS7-2AG, identified in 81.6% of all the families.Conclusion Many different mutations in SLC26A4 gene are responsible for the deafness with EVA in Chinese population.Agressive screening of SLC26A4 gene to this mutation can reduce the birthrate of infant with enlarged vestibular aqueduct.
【Fund】: 国家自然基金面上项目(编号30370782&30470956);; 北京市重大科技专项子课题(编号H020220020610);; 高等学校全国优秀博士学位论文作者专项资金资助项目(编号200463);; “863”计划滚动项目(编号2004AA221080)资助
【CateGory Index】: R764.3
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【References】
Chinese Journal Full-text Database 2 Hits
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