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目的:调查新疆地区维吾尔族非综合征型遗传性聋患者的线粒体DNA 12SrRNA A1555G突变情况,为预防氨基苷类抗生素致聋提供依据。方法:收集新疆地区51例维吾尔族非综合征型遗传性聋患者,53例维吾尔族听力正常者作为对照组。抽取外周静脉血,从白细胞中提取DNA,PCR扩增线粒体DNA目的片断,Alw26I限制性内切酶检测A1555G点突变,而后对阳性患者的PCR产物进行DNA测序验证。结果:在所有样本中,2例存在线粒体DNA A1555G点突变,均为维吾尔族非综合征型遗传性聋患者,且均有明确氨基苷类抗生素用药史。结论:新疆地区维吾尔族耳聋患者及维吾尔族正常人线粒体DNA A1555G检出率比较差异无统计学意义。携带有该突变的个体对氨基苷类抗生素的耳毒作用有高度易感性。新疆地区聋哑患者的A1555G突变检出率低于全国平均水平。
Objective: To investigate the mutation of mitochondrial DNA 12SrRNA A1555G in non-syndromic hereditary deafness patients in Xinjiang Uygur Autonomous Region, and to provide basis for preventing deafness of aminoglycoside antibiotics. Methods: 51 cases of Uyghur non-syndromic hereditary deafness and 53 cases of Uyghur normal hearing were collected from Xinjiang as control group. Peripheral venous blood was drawn, DNA was extracted from white blood cells, mitochondrial DNA was amplified by PCR, A1555G point mutation was detected by Alw26I restriction endonuclease, and then DNA sequencing was performed on PCR products of positive patients. Results: In all samples, mitochondrial DNA A1555G point mutation was found in 2 cases, both of which were Uyghur nonsyndromic hereditary deaf patients, and the history of aminoglycoside antibiotics was clear. Conclusion: There is no significant difference in the detection rate of mitochondrial DNA A1555G between Uygur deafness patients and normal Uygur people in Xinjiang region. Individuals carrying this mutation are highly susceptible to ototoxicity of aminoglycoside antibiotics. The detection rate of A1555G mutation in deaf-mute patients in Xinjiang is lower than the national average.