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《Chinese Archives of Otolaryngology-Head and Neck Surgery》 2008-11
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Mutation analysis of GJB3 in Chinese population with DFNA

SUN Qing~1 YUAN Huijun~2 LIU Xin~2 YU Fei~2 KANG Dongyang~2 ZHANG Xin~2 DAI Pu~2 HAN Dongyi~2 (1 Department of Otolaryngology Head and Neck Surgery,General Hospital of Chinese People's Armed Police Forces,Beijing,100039,China; 2 Institute of Otolaryngology,PLA General Hospital,Beijing,100853,China)  
OBJECTIVE To investigate the contribution of the GJB3 gene(encoding connexin 31)mutations in Chinese population with autosomal dominant non-syndromic hearing loss (DFNA). METHODS PCRwere performed with one pair of primer in the coding sequence of GJB3gene. Bidirectional sequencing of PCR products was subsequently applied in 31 patients with DFNA. RESULTS Thirty one Chinese DFNA families (in each family affected members≥5) were screened.Mutation analysis revealed that 6 cases carried 2 kinds of GJB3 sequence variants which were known polymorphisms. Four patients carried heterozygosis base pair changes: 357CT.One patient carried homozygosis base pair changes:357CT.The another was a novel mutation:250GA,resulted in amino acid change,V84. CONCLUSION These studies suggest that mutations in GJB3 may be not common in Chinese DFNA populations.
【Fund】: 国家自然科学基金面上项目(30371523);; 国家自然科学基金海外青年学者合作基金(30528025)联合资助
【CateGory Index】: R764
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