人工耳蜗植入者连接蛋白26基因(GJB2)突变分析  

High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients

作　　者：陈东野[1] 陈晓巍[1] 曹克利[1] 金昕[1] 左瑾[2] 魏朝刚[1] 方福德[2] 

机构地区：[1]中国协和医科大学中国医学科学院北京协和医院耳鼻喉科,100730 [2]中国医学科学院基础医学研究所国家医学分子生物学实验室

出　　处：《中华医学杂志》2006年第44期3114-3117,共4页National Medical Journal of China

基　　金：国家自然科学基金资助项目(30271401)

摘　　要：目的研究重点探讨在接受人工耳蜗植入的患者中,连接蛋白26基因(GJB2)突变发生的几率、突变形式。方法取115例中国人接受人工耳蜗植入的患者及健康对照109例。取外周血提取基因组DNA,经聚合酶链反应-单链构象多态(PCR-SSCP)及直接测序分析。结果36·5%(42/115)的人工耳蜗植入患者发现GJB2基因突变,其中41%(41/100)的非综合征型耳聋患者发现GJB2基因突变,内耳畸形组仅1例(1/15)。研究中共发现突变形式有11种,其中235delC是最常见的突变类型,等位基因频率占全部人工耳蜗植入患者的18·3%(42/230),占非综合征型耳聋组的21·0%(42/200)。187G>T和230G>A突变是首次发现的新突变。结论GJB2基因突变是中国人工耳蜗植入患者主要的致聋基因突变,235delC是其最常见的突变类型。Objective To determine the prevalence ot GJB2 gene mutations in patients undergoing cochlear implantation. Methods We enrolled 115 cochlear implant recipients for mutation screening. Genomic DNA was extracted from the blood of all patients, amplified in PCR and analyzed for single strand conformation polymorphism （SSCP） or direct sequencing to detect mutations of GJB2 gene. Results The result shows that the GJB2 mutations are detected in 36. 5 % （42/115） of the cochlear implant recipients, and especially 41% （41/100） of the non-syndromic deafness patients, only 1 inner ear malformation patient was detected with GJB2 mutations. This study found 11 different variations in the GJB2 gene. The 235delC mutation was the most prevalent mutation accounting for 18. 3% （41/230） in all cochlear implant recipients and21% （42/200） in non-syndromic deafness group. 187G 〉 T and 230G 〉 A mutations were novel mutation of GJB2 gene in the Chinese population. Conclusion Mutations in the GJB2 gene were a major cause of deafness in cochlear implant recipients, the cartier frequency of 235delc mutation was highest.

关 键 词：听力丧失 GJB2 遗传学 突变 人工耳蜗植入 

分 类 号：R764[医药卫生—耳鼻咽喉科]