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目的探讨线粒体DNA 961delT/insC(n)突变与氨基甙类药物性耳聋的相关性。方法对一个耳聋家系11个成员采集氨基甙类抗生素用药史、进行听力学检查、表型分析,采集外周静脉血样本,从白细胞中提取DNA,用聚合酶链反应扩增线粒体DNA(mtDNA)全序列,对扩增片段进行DNA测序,对发现的基因突变与耳聋表型进行分离分析。结果参与研究的所有9例母系成员均检出mtDNA 961delT/insC(n)突变。有明确氨基甙类抗生素用药史的4例中只有2例耳聋患者,其中1例为用药之前出现的先天性聋,另1例为用药后38年出现的轻度耳聋。突变不与耳聋共分离。结论本研究不支持mtDNA 961delT/insC(n)突变是该家系耳聋的致病突变,mtDNA 961位点附近可能是一个多变异的区域,mtDNA 961delT/insC(n)可能是一个与氨基甙类药物性耳聋不明确相关的多态。
Objective To investigate the relationship between mitochondrial DNA 961delT / insC (n) mutation and aminoglycoside-induced deafness. Methods A history of aminoglycoside antibiotics was collected from 11 members of a family with deafness. The samples were subjected to audiological examination and phenotypic analysis. Peripheral venous blood samples were collected. DNA was extracted from white blood cells and all mitochondrial DNA (mtDNA) was amplified by polymerase chain reaction Sequence, amplified DNA fragments were sequenced, the mutation found in the gene and deafness phenotype were analyzed. Results All 9 maternal members involved in the study detected the mtDNA 961delT / insC (n) mutation. There were only 2 cases of deafness among the 4 patients who had a clear history of aminoglycosides, of which 1 was congenital deafness before medication and the other 1 was mild deafness 38 years after treatment. Mutations do not co-segregate with deafness. Conclusion This study does not support the mtDNA 961delT / insC (n) mutation is a causative mutation in deafness of this family. The mtDNA 961delta may be a region with multiple mutations. The mtDNA 961delT / insC (n) may be a mutation associated with aminoglycosides Sexual deafness is not clearly related to polymorphism.