中国散发耳聋患者GJB6基因的突变筛查  

A novel mutation of GJB6 in Chinese sporadic non-syndromic hearing impairment

作　　者：韩东一[1] 李庆忠[2] 兰兰[1] 赵亚丽[1] 袁虎[1] 李丽娜[1] 刘穹[1] 王秋菊[1,2] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科,解放军耳鼻咽喉研究所,北京100853 [2]复旦大学附属眼耳鼻喉科医院耳鼻咽喉科,200031 [3]国家人类基因组北方中心

出　　处：《中国耳鼻咽喉头颈外科》2006年第10期670-672,共3页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：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

摘　　要：目的研究中国散发耳聋患者与缝隙连接蛋白beta-6基因(gap junction protein beta 6 gene,GJB6)突变的相关性。方法分别设计扩增GJB6基因编码区和大片缺失后产物的引物各1对,应用PCR产物直接测序方法对各种感音神经性耳聋患者214例、正常听力者86例进行GJB6基因的突变检测及鉴定。结果没有发现在欧美耳聋人群中常见的GJB6大片段缺失,在214例患者中仅发现GJB6基因一种杂合错义突变,为一个新的突变形式233(C→A),进一步的各物种多种连接蛋白氨基酸序列进化分析证实该突变位点位于C×30高度保守的第二跨膜区。86例正常对照组中未发现同样突变。结论通过研究发现GJB6突变不是中国散发耳聋患者中的常见致病因素,为下一步开展耳聋相关基因和临床基因诊断研究打下了基础。OBJECTIVE To investigate the contribution of the GJB6 gene [encoding connexin 30 （Cx30）] 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 [A（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.

关 键 词：基因 突变 听力障碍 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]