军事噪声性听力损失流行病学调查及线粒体基因变异分析

发布时间：2019-05-05 10:29

【摘要】： 目的:在以往大量研究显示耳聋与线粒体基因突变有密切关系的基础上,研究军事噪声性听力损失遗传易感性与线粒体基因变异的关系,为确定噪声易感个体的分子诊断方法,寻找预防和治疗军事噪声性听力损失的途径提供依据。 方法:对云南某部接触军事噪声的406名坦克兵,626名炮兵,共计1032例进行听力损失情况调查,收集军事噪声易感者82例,耐受者40例,共计122例。分别采集外周静脉血标本,从白细胞中提取DNA,PCR扩增线粒体DNA 12S rRNA、tRNA Val、16S rRNA、COⅠ、S(UCN)、tRNA Asp和COⅡ基因等与耳聋相关的热点突变部分片段,进行基因测序比对分析。结果用SPSS11.5软件进行统计学分析。 结果:122份DNA样本进行PCR扩增,均扩增出特征性的条带,与预期结果相符。基因序列分析显示,军事噪声易感者和耐受者的线粒体基因存在一定的差异,在检测到的共76种碱基改变中,有41种只分布在实验组,17种只分布在对照组,29种碱基改变未见报道。线粒体COⅡ基因T7684C和G7853A两个位点的变化只分布在实验组,在两组间存在统计学差异(P＜0.05)。A827G、T961insC(异质)、T1005C、T1095C、G7444A等文献报道可能与耳聋相关的线粒体基因改变在本研究中亦有发现,多数分布在实验组,对照组也有分布。 结论:本研究发现线粒体COⅡ基因T7684C和G7853A两个位点的碱基变化可能与军事噪声性听力损失的遗传易感性有关,很可能是军事噪声性听力损失的标签SNP。我们推测携带这两种碱基改变的个体在接触军事噪声后更容易发生听力损失,值得进一步深入研究。线粒体单一位点基因改变可能与线粒体的单倍体型、核基因和环境因素等共同作用影响耳聋的表型,不同耳聋类型可能有相同的基因改变。
[Abstract]:Objective: on the basis of a large number of previous studies showing a close relationship between hearing loss and mitochondrial gene mutation, to study the relationship between the genetic susceptibility to military noise-induced hearing loss and mitochondrial gene mutation, in order to determine the molecular diagnostic method of noise-susceptible individuals. To provide evidence for the prevention and treatment of military noise-induced hearing loss. Methods: a total of 1032 cases of military noise exposed to military noise in Yunnan were investigated. 82 cases were susceptible to military noise, 40 cases were tolerant to military noise, and a total of 1032 cases were exposed to military noise. Peripheral venous blood samples were collected and DNA,PCR was extracted from white blood cells. Mitochondrial DNA 12s rRNA,tRNA Val,16S rRNA,CO 鈪，

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