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目的探讨在病因不明的非综合征型感音神经性聋患者中进行GJB2基因和线粒体12SrRNAA1555G突变检测的临床意义。方法对317例非综合征型感音神经性聋患者(排除了明确诊断为前庭导水管扩大和听神经病患者),进行线粒体12SrRNAA1555G突变和GJB2基因突变检测。应用聚合酶链反应扩增线粒体12SrRNA基因和GJB2基因编码区,限制性内切酶Alw26I检测线粒体DNAA1555G突变,对酶切提示A1555G突变的病例和全部GJB2基因扩增产物进行DNA测序。结果18例为线粒体12SrRNAA1555G突变,阳性率为5.68%(18/317)。GJB2基因序列分析发现致病突变纯合和复合杂合者为37例,阳性率为11.67%(37/317),致病突变杂合携带者为17例,检出率为5.36%。317例患者中,17.35%[(18+37)/317]的耳聋患者的致病原因为线粒体12SrRNAA1555G突变和GJB2基因突变导致。结论对病因不明的非综合征型感音神经性聋患者进行GJB2基因和线粒体12SrRNAA1555G突变的检测,有助于病因诊断。
Objective To investigate the clinical significance of detecting GJB2 gene and mitochondrial 12SrRNAA1555G mutation in patients with non-syndromic sensorineural hearing loss of unknown etiology. Methods Mitochondrial 12S rRNAA1555G mutation and GJB2 gene mutation were detected in 317 patients with non-syndromic sensorineural deafness (excluding patients with definite diagnosis of vestibular aqueduct enlargement and auditory neuropathy). The mitochondrial 12SrRNA gene and GJB2 gene coding region were amplified by polymerase chain reaction and the mitochondrial DNAA1555G mutation was detected by restriction endonuclease Alw26I. The DNA fragments were digested with the A1555G mutation and all GJB2 gene amplification products. Results 18 cases of mitochondrial 12SrRNAA1555G mutation, the positive rate was 5.68% (18/317). GJB2 gene sequence analysis found that pathogenic mutation homozygous and compound heterozygous for 37 cases, the positive rate was 11.67% (37/317), pathogenic mutation heterozygous carrier was 17 cases, the detection rate was 5.36%. Of the 317 patients, 17.35% [(18 + 37) / 317] of the deaf patients were caused by the mitochondrial 12S rRNAA1555G mutation and the GJB2 gene mutation. Conclusion The detection of GJB2 gene and mitochondrial 12SrRNAA1555G mutation in patients with non-syndromic sensorineural hearing loss of unknown etiology is helpful to the etiological diagnosis.