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《Chinese Archives of Otolaryngology-Head and Neck Surgery》 2006-10
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A novel mutation of GJB6 in Chinese sporadic non-syndromic hearing impairment

HAN Dongyi, LI Qingzhong, LAN Lan, ZHAO Yali,YUAN Hu, LI Una, LIU Qiong,WANG Qiuju ( Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China ; Department of Otolaryngology, EENT Hospital,Fudan University, Shanghai, 200031,China; Chinese National Human Genome Centre, Beijing, 100176, China)  
OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 (C×30)] mutations in Chinese population with sporadic non-syndromic hearing impairment. METHODS PCR reactions were performed with two pair of primers for the coding sequence of GJB6 gene and for the deletion of GJB6. PCR products bidirectional sequencing was subsequently applied in 214 patients with hearing loss and 86 normal controls. RESULTS A novel heterozygous mutation-233(C→A) was found, which results in amino acid change, A78D. This mutation wasn't detected in the control subjects. The altered valine residue lies within the second conserved transmembrane domain. The large deletion△(GJB6/ D13S1830)] of GJB6 was not found in this group. CONCLUSION The large deletion of GJB6 was not found in the Chinese deafness population. A novel heterozygous mutation of GJB6 was found. These results indicated GJB6 mutations are not a major cause of hearing loss in the Chinese population.
【Fund】: 国家“863”面上项目(2004AA221080);; 国家自然科学基金面上项目(30370782、30470956及30572016);; 北京市重大科技项目课题(H020220020610)联合资助
【CateGory Index】: R764.43
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