Tian Yong-sheng, Chen Xiao-wei, Cao Ke-li, Chen Dong-ye, Zuo Jin, Fang Fu-de
Department of Otorhinolaryngology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing 100730, China.
Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1093-6.
To investigate the prevalence of mutations of the gap junction protein (GJB) 2 and mitochondria 12SrRNA in patients with nonsyndromic hearing loss who received cochlear implant.
Genomic DNA was extracted from the peripheral blood samples obtained from 100 Chinese patients who had received cochlear implantation, 96 with prelingual hearing loss and 4 with postlingual hearing loss, all very severe. Sixteen of the 100 patients had the history of application of aminoglycosides, among which 12 were with prelingual hearing loss and 4 with postlingual hearing loss. PCR was performed and the products were sequenced by automated DNA sequencer.
GJB2 mutations were detected in 34 of the 100 cochlear implant recipients (34%), all with prelingual hearing loss, among which 27 (27%) had 235delC mutation. Among the 16 patients who had used aminoglycosides, two had the mutation A1555G, and one carried the mitochondrial genetic mutation delT961Cn.
Mutation of GJB2 gene is the major cause of deafness in cochlear implant recipients, with a high frequency of 235delC mutation. Mitochondria genetic mutation A1555G is the common form of mutation in postlingual deafness with a history of aminoglycoside injection.
研究接受人工耳蜗植入的非综合征性听力损失患者中缝隙连接蛋白（GJB）2和线粒体12SrRNA的突变发生率。
从100例接受人工耳蜗植入的中国患者的外周血样本中提取基因组DNA，其中96例为语前聋，4例为语后聋，均为极重度听力损失。100例患者中有16例有氨基糖苷类药物使用史，其中12例为语前聋，4例为语后聋。进行聚合酶链反应（PCR），产物用自动DNA测序仪测序。
100例人工耳蜗植入受者中有34例（34%）检测到GJB2突变，均为语前聋，其中27例（27%）有235delC突变。在16例使用过氨基糖苷类药物的患者中，2例有A1555G突变，1例携带线粒体基因突变delT961Cn。
GJB2基因突变是人工耳蜗植入受者耳聋的主要原因，235delC突变频率较高。线粒体基因突变A1555G是有氨基糖苷类药物注射史的语后聋的常见突变形式。
