人工耳蜗植入者连接蛋白26基因(GJB2)突变分析

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。

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

Objective To determine the prevalence of 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 and 21% (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 carrier frequency of 235delC mutation was highest.