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目的:通过对一个氨基甙类抗生素致聋家系11名成员的线粒体DNA进行分析,探讨该病的遗传方式及与线粒体DNA突变的关系。方法:对11名成员外周血线粒体DNA进行PCR-RFLP及测序分析。结果:8例标本的PCR-RFLP结果异常,测序表明其均存在1555位点C-T突变。结论:氨基甙类抗生素致聋与线粒体DNA突变有关,该家系呈典型母系遗传。
Objective: To analyze the mitochondrial DNA of 11 members of an aminoglycoside-induced deaf family and discuss the genetic mode of the disease and its relationship with mitochondrial DNA mutations. Methods: The mitochondrial DNA of peripheral blood of 11 members were analyzed by PCR-RFLP and sequencing. Results: The results of PCR-RFLP in 8 specimens were abnormal. Sequencing showed that there were C-T mutations at 1555 sites. Conclusion: Aminoglycoside-induced deafness is related to mitochondrial DNA mutation. The pedigree is typical maternally inherited.