期刊简介
本刊主要面向从事耳科学，神经耳科学和耳神经外科学工作的临床、科研及教学人员。办刊方针为;贯彻理论与实践，普及与提高相结合的卫生工作政策。反映我国耳科学临床和科研工作的最新进展，促进国内外学术交流，推动我国耳科学发展。
首页>中华耳科学杂志
- 杂志名称：中华耳科学杂志
- 主管单位：解放军总医院
- 主办单位：解放军总医院耳鼻咽喉科研究所
- 国际刊号：1672-2922
- 国内刊号：11-4882/R
- 出版周期：双月刊
期刊荣誉：2006年进入统计源期刊期刊收录：知网收录(中), 维普收录(中), 北大核心期刊(中国人文社会科学核心期刊), 上海图书馆馆藏, 统计源核心期刊(中国科技论文核心期刊), 国家图书馆馆藏, CSCD 中国科学引文数据库来源期刊(含扩展版), 万方收录(中)
关键词：mitochondrial DNA, sensorineural hearing loss, hearing impairment, hot spot
摘要：Mutations in the mitochondrial DNA(mtDNA) have been shown to be one of the important causes of deafness.In particular, mutations in mitochondrial DNA(mtDNA)have been found to be associated with both syndromic and non-syndromic forms of sensorineural hearing loss.The deafness-linked mutations often occur in the mitochondrial 12S rRNA gene and the tRNA genes.The mutations in the 12S rRNA gene account for a significant number of cases of aminoglycoside ototoxicity.The other hot spot for mutations associated with hearing impairment is the tRNA Ser(UCN)gene,as five deafness-linked mutations have been identified.Non-syndromic deafness-linked mtDNA mutations are often homoplasmic or at high levels of heteroplasm,indicating a high threshold for pathogenicity.Phenotypic expression of these mtDNA mutations require the contribution of other factors,such as nuclear modifier gene(s),environmental factor(s) and mitochondrial haplotype(s).
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