新疆维吾尔族非综合征型遗传性聋患者线粒体DNA 12SrRNA A1555G突变分析

Analysis of mtDNA 12SrRNA A1555G mutations of Uigur patients with nonsyndromic hereditary hearing loss in xinjiang

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 explore the incidence of Uigur patients with nonsyndromic hereditary hearing loss in Xinjiang,and to provide the basis for preventing deafness caused by aminoglycoside antibiotics.Method：The medical history of 51 Uigur deaf patients as the study group was collected in Xinjiang.Fifty-three Uigur normal people were selected as the control group in Xinjiang.Blood samples were obtained from them with informed consents.Genomic DNA was extracted from isolated leukocytes.The mitochondrial DNA fragments were amplified by polymerase chain reaction.mtDNA 12SrRNA A1555G mutation was detected using Alw26I restriction endonuclease digestion,followed by direct sequencing to identify the A1555G mutation.Result：The mtDNA A1555G mutation was detected in 2 Uigur patients,and both of them had used aminoglycoside antibiotics.Conclusion：There is no statistically significant difference between patients and normal people in Xinjiang.The mtDNA A1555G mutation is related to aminoglycoside antibiotics-induced deafness,which can cause genetic susceptibility to aminoglycoside antibiotics ototoxicity.The incidence of mtDNA A1555G is lower than the average level of the overall Chinese deaf population.