运城市聋哑学校重度感音性聋分子病因学分析--GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变筛查报告

目的 调查山西省运城地区重度感音性耳聋病因学情况。方法 对运城市聋哑学校142名学生进行耳聋病因问卷调查、纯音听阈测试，对其中139名非综合征性感音神经性耳聋患者进行线粒体DNA 12SrRNA A1555G点突变检测和GJB2基因突变检测。结果 7例（5．04％）存在线粒体DNA A1555G点突变，8例（5．76％）存在-GJB2 235delC纯合突变，14例（10．07％）存在 -GJB2 235delC杂合突变，在分子水平能够明确诊断者占20．87％。结论 运城地区耳聋患者存在较高的遗传性耳聋发生率，特别是线粒体DNA 12SrRNA A1555G突变发生率高于全国平均水平，通过聋病分子诊断，可达到防聋、指导聋儿康复及评估耳聋预后等积极效果。

Melecular genetic analysis of GJB2 gene and mtDNA 12SrRNA A1555G mutations in severe-profound hearing loss patients in Yuncheng, Shanxi Province of China

Objective To conduct a survey of the etiologic causes of severe-profound hearing loss in Yuncheng, Shanxi. Methods The evaluation of hearing loss, etiologic survey and the molecular genetic analysis for genes common to hereditary hearing disorders were performed in 139 non-syndromic hearing impairment students at the Deaf-Mute School in Yuncheng, Shanxi. Results Of the 139 patients with nonsyndromic hearing impairment (NSHI) seven were found to carry the mtDNA 12SrRNA A1555G mutation; 8 cases were shown to carry the GJB2 235delC homozygous mutation while other 14 cases, to carry the GJB2 235delC heterozygous mutation. Conclusions There are a high frequency (20.87%) of the GJB2 gene and mtDNA mutations among the deaf-mute school students in Yuncheng, Shanxi. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.