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目的对非综合征型聋患者进行聋病分子病因学分析。方法对北京第三聋哑学校学生进行耳聋病因问卷调查、纯音测听检查,应用PCR扩增及限制酶切方法对158名非综合征型感音神经性聋患者进行GJB2和线粒体DNA 12SrRNA A1555G基因突变的检测。结果在158例感音神经性聋患者中,5例(3.16%)存在线粒体DN-A12SrRNA A1555G点突变,其中2例有明确的氨基糖甙类抗生素用药史;24例(15.18%)存在GJB2 235delC纯合性突变;12例(7.59%)存在GJB2 235delC杂合性突变。在基因水平明确诊断或强烈提示遗传性聋者占25.93%。结论对GJB2 235delC突变和线粒体DNA 12SrRNA A1555G突变的基因筛查可以明确或提示部分非综合征型聋的病因,对防聋、指导聋儿家庭婚育及评估人工耳蜗手术预后起到重要作用。
Objective To analyze the molecular etiology of deafness in non-syndromic deafness patients. Methods A total of 158 non-syndromic sensorineural hearing-impaired patients with GJB2 and mitochondrial 12SrRNA A1555G gene were enrolled in this study. Mutation detection. Results In 158 patients with sensorineural deafness, mitochondrial DN-A12SrRNA A1555G point mutation was found in 5 patients (3.16%), of which 2 patients had a clear history of aminoglycoside antibiotics; 24 patients (15.18%) had GJB2 235delC Homozygous mutation; 12 cases (7.59%) there GJB2 235delC heterozygous mutation. At the gene level, a clear diagnosis or strong suggestion of hereditary deaf accounted for 25.93%. Conclusion The genetic screening of GJB2 235delC mutation and mitochondrial 12SrRNA A1555G mutation can confirm or suggest the etiopathogenesis of partial nonsyndromic hearing loss and play an important role in preventing deafness, guiding family marriage and childbirth and evaluating the prognosis of cochlear implants.