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目的调查新疆地区聋哑学生GJB2基因和线粒体DNA12SrRNA A1555G突变情况。方法收集本地区402例感音神经性聋患者基因组DNA,聚合酶链反应扩增线粒体DNA和GJB2基因目的片段,AIw26I限制性内切酶检测线粒体DNA12SrRNA A1555G点突变,对酶切阳性病例和全部GJB2基因PCR产物进行DNA测序。结果维吾尔族、回族和哈萨克族患者中检测到GJB2基因35delG突变,突变携带率分别为5.2%、5.9%和15.4%;汉族和维吾尔族患者检测到GJB2基因235delC突变,突变携带率分别为15.2%和7.1%;维吾尔族患者中发现GJB2基因两种新突变311del14和187delG;9例患者检出线粒体DNA12SrRNA A1555G突变。结论GJB2基因突变在该地区耳聋人群中有较高携带率,新疆地区不同民族GJB2基因突变谱和热点突变存在差异,线粒体DNA12SrRNA A1555G突变是该地区常见聋病基因突变。
Objective To investigate the GJB2 gene and mitochondrial DNA 12SrRNA A1555G mutation in deaf students in Xinjiang. Methods The genomic DNA of 402 patients with sensorineural deafness in our region was collected. The mitochondrial DNA and GJB2 gene were amplified by polymerase chain reaction (PCR) and Alw26I restriction endonucleases were used to detect mitochondrial 12SrRNA A1555G point mutation. The positive cases and all GJB2 Gene PCR products were DNA sequenced. Results 35delG mutation of GJB2 gene was detected in Uygur, Hui and Kazak patients, the mutation carrying rates were 5.2%, 5.9% and 15.4%, respectively. The 235delC mutation of GJB2 gene was detected in Han and Uigur patients, the mutation carrying rates were 15.2% And 7.1% respectively. Two new mutations of GJB2 gene, 311del14 and 187delG, were found in Uighur patients. Mitochondrial DNA 12SrRNA A1555G mutation was detected in 9 patients. Conclusions Mutation of GJB2 gene has high carrying rate in deaf population in this area. There is difference between GJB2 gene mutation and hot spot mutation in different ethnic groups in Xinjiang. Mitochondrial DNA 12SrRNA A1555G mutation is a common genetic mutation of deafness in this area.