氨基糖苷类抗生素致聋的遗传异质性

Effect of Genetic Factors on Deafness Induced by Aminoglycoside

目的 :确定线粒体 DNA1 2 S r RNA基因的 1 5 5 5位点 A→ G的突变与药物性致聋的关系。方法 :采用 PCR- RFLP的方法分析家族性和散发性氨基糖苷类抗生素 ( Am An)致聋的易感性与 1 2 SRNA的相关性。结果 :在一个典型的 Am An致聋的家系中 ,全部患者均未检出 1 2 SRNA基因 1 5 5 5 G的突变 ,在 1 88例散发 Am An致聋的患者中仅有 5 .32 %携带 1 5 5 5 G的突变。而在一个母系遗传的进行性感音神经性耳聋 ( SNHL)家系中却检到了 1 5 5 5 G的突变。结论 :Am An致聋具有遗传异质性 ,Am An致聋可能还有线粒体基因的其它位点的突变参与。

Objective: In order to determine whether drug induced deafness is caused by the 1 555 A to G mutation of mitochondrial 12 s rRNA gene. Methods: PCR RFLP assay was applied in the study to analyze correlation of aminoglycosideindce induced deafness with or without family history and mtDNA mutation. Results: A pedigree of the family showed aminoglycoside induced hearing impairment but all affected persons had no mtDNA 1 555 G mutation. Mutation, however, was found among a pedigree with maternally inherited sensorineural deafness. Rate of the mutation among 188 sporadic affected person with drug induced deafness was 5.32%. Conclusion: Aminoglycoside induced deafness is genetic heterogeneous. The results indicated that other mtDNA mutation may be involved in aminoglycoside induced deafness besides 1 555 G mutation.