中文摘要：

目的 分析武汉地区非综合征性耳聋（nonsyndromic hearing impairment，NSHI）患儿GJB2 235delC突变率和线粒体DNA A1555G突变率。方法 收集武汉市艺萌听力康复中心的94例耳聋患儿血样，非综合征性耳聋患儿88例，提取DNA后经聚合酶链反应（PCR）分别扩增GJB2基因编码区及线粒体DNA，ApaI酶切分析GJB2 235位点的C缺失突变，Prev—DAF药物性耳聋基因诊断试剂盒分析线粒体1555位点的A—G突变，对GJB2 235ddC及线粒体DNA A1555G的突变率进行统计分析。结果 88例患儿中9例（10．23％）为GJB2 235delC纯合突变，7例（7．96％）为GJB2 235delC杂合突变；2例（2．27％）存在线粒体DNA A1555G点突变。在分子水平能够明确诊断者占20．46％。结论 武汉地区耳聋患者存在较高的遗传性耳聋发生率，应用基因诊断技术可以在耳聋患者病因调查中进行快速诊断筛查，达到防止再生育聋儿、指导聋儿康复等积极效果。

英文摘要：

Objective To determine the prevalence of GJB2 235delC and mitochondrial DNA （mtDNA） A1555G mutations in nonsyndromic hearing impairment patients at a hearing rehabilitation center in Wuhan. Methods The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. Using polymerase chain reaction （PCR）, the code region of GJB2 gene was amplified. The GJB2 235delc mutation was distinguished by Apa I restricted enzyme digestion method. The Prev-DAF Kit was used to detect mtDNA A1555G mutation. Results GJB2 235delC was found in 16 cases （ 9 cases were homozygosis, 7 cases were heterozygosis）; 2 cases were found to carry the mtDNA A1555G mutation. Conclusions The incidence rate of GJB2 235 delC and mtDNA A1555G mutation is 20.46% in severe-profound nonsyndromic hearing loss patients at a hearing rehabilitation center in Wuhan. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditory hearing loss.