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Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province
Author(s): 
Pages: 996-1003
Year: Issue:  12
Journal: Chinese Journal of Otorhinolaryngology Head and Neck Surgery

Keyword:  Hearing impaired personsDNAmitochondrialRNAribosomalMutationAminoglycosides;
Abstract: 目的 探讨线粒体12S rRNA基因变异对母系遗传药物性聋表型表达的影响.方法 收集浙江省7所聋校456例非综合征型聋儿资料,提取全血基因组DNA,进行线粒体12S rRNA基因扩增并测序分析.结果 共发现31种已知变异类型,其中1555A>G的突变率为4.4% (20/456),可能与耳聋相关的961和1095位点的突变率分别为2.0%(9/456)和0.7%(3/456).1027A>G、1109T>C与1431G>A突变位于12S rRNA基因的高度保守区域且未在449例对照组中发现,可能会增加耳毒性药物的敏感性.1555A>G突变携带者的临床资料分析发现,不同个体在发病年龄、听力损失程度、听力曲线类型等耳聋表型方面存在差异.结论 线粒体12S rRNA基因是药物性耳聋及非综合征型耳聋相关的突变热点区域.核修饰基因、单体型和环境因素等对耳聋的表型表达有调节作用.
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