线粒体基因突变与遗传性耳聋（综述）

发布时间：2018-08-07 17:16

【摘要】：目的:线粒体基因突变是导致遗传性耳聋的一个重要原因,位于线粒体基因12Sr RNA上的A1555G突变、C1494T突变是人们最早发现的和遗传性耳聋有关的线粒体突变位点,但由于还存在许多其它未熟知的线粒体基因突变位点,故本文通过查阅相关文献,对与遗传性耳聋有关的线粒体基因突变位点进行综述,更全面地认识及了解线粒体基因突变在遗传性耳聋发病中的作用。方法:分别选取“耳聋、遗传性耳聋、药物性耳聋、线粒体、基因突变”等作为关键词,运用文献检索方法中的常用法、追溯法、分段法,在中国知网数据库、万方数据库、中国生物医学文献数据库、维普数据库、Pub Med等数据库中选出国内外关于线粒体基因突变与遗传性耳聋发病机制研究的相关文献信息,整理资料并进行总结。结果:线粒体基因突变是导致大多数患者先天性听力缺损的重要原因,基因突变虽在遗传性耳聋发病中占据主导地位,但耳聋表型的发生同时还受到其它一些因素的影响,如核基因的调控及药物等环境因素的影响。线粒体上导致遗传性耳聋患者听力损失的突变基因主要有:线粒体DNA 12Sr RNA上的A1555G突变、C1494T突变、A827G突变、961del T/ins C(n)突变、T1095C突变;线粒体DNA 16Sr RNA 2227 ins AA;线粒体t RNA上的t RNA ser(UCN)7445AG突变、7444 GA突变、7511 TC突变、7510 TC突变、7505 TC突变、7462CT突变,线粒体t RNA Leu(UUR)A3243G突变,线粒体t RNAHis T12201C突变、12192G突变,t RNAThr15927GA突变、15910CT突变等。结论:线粒体基因突变是导致遗传性耳聋的一个重要原因,与遗传性耳聋有关的线粒体基因突变主要位于线粒体12Sr RNA和t RNA上;线粒体基因突变导致的耳聋既有综合征型耳聋又有非综合征型耳聋,线粒体t RNA Leu(UUR)A3243G突变主要引起综合征型耳聋,线粒体12Sr RNA A1555G突变、C1494T突变、A827G突变、961del T/ins C(n)突变、T1095C突变主要与非综合征型耳聋有关;线粒体12Sr RNA A1555G突变、C1494T突变与氨基糖苷类药物性耳聋的发生密切相关。
[Abstract]:Objective: mitochondrial gene mutation is an important cause of hereditary deafness. The A1555G mutation C1494T mutation located on mitochondrial gene 12Sr RNA is the earliest mitochondrial mutation site associated with hereditary deafness. However, because there are many other unknown mitochondrial gene mutation sites, this paper reviews the mitochondrial gene mutation sites related to hereditary deafness. To understand the role of mitochondrial gene mutation in the pathogenesis of hereditary deafness. Methods: "deafness, hereditary deafness, drug-induced deafness, mitochondria, gene mutation" were selected as keywords respectively. In the Chinese Biomedical Literature Database, the Weip Database and Pub Med database, relevant literature information on mitochondrial gene mutation and the pathogenesis of hereditary deafness were selected and summarized. Results: mitochondrial mutation is an important cause of congenital hearing loss in most patients. Although the mutation plays a leading role in the pathogenesis of hereditary deafness, the phenotype of deafness is also affected by some other factors. Such as the regulation of nuclear genes and drugs and other environmental factors. The main mutation genes in mitochondria causing hearing loss in hereditary deafness patients are: A1555G mutation C1494T mutation A827G mutation 961 del T/ins C (n) mutation T1095C mutation in mitochondrial DNA 12Sr RNA; Mitochondrial DNA 16Sr RNA 2227 ins AAA; t RNA ser (UCN) 7445AG mutation on mitochondrial t RNA; t RNA ser (UCN) 7445AG 7544GA mutation; 7511TC mutation; 7510TC mutation; 7505TC mutation; mitochondrial t RNA Leu (UUR) A3243G mutation; mitochondrial t RNAHis T12201C mutation; t RNAThr15927GA mutation; 15910CT mutation. Conclusion: mitochondrial gene mutation is an important cause of hereditary deafness. Mitochondrial gene mutations related to hereditary deafness are mainly located in mitochondrial 12Sr RNA and t RNA. Mitochondrial gene mutation caused both syndromic deafness and non-syndromic deafness. Mitochondrial t RNA Leu (UUR) A3243G mutation mainly caused syndromic deafness. The mitochondrial 12Sr RNA A1555G mutation (C1494T) and the A827G mutation 961 del T/ins C (n) mutation T1095C were mainly associated with non-syndromic deafness, and mitochondrial 12Sr RNA A1555G mutation C1494T was closely related to aminoglycoside induced deafness.
【学位授予单位】：遵义医学院
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R764.43

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