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目的研究线粒体基因变异与军事噪声性听力损失遗传易感性的关系,为确定噪声易感个体的分子诊断方法提供依据。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例进行听力损失调查,收集军事噪声易感者(易感组)82例,耐受者(耐受组)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及非综合征型耳聋相关的热点突变部分片段,进行基因测序比对分析,比较两组中存在碱基改变的位点分布例数。对测序结果中存在与耳聋相关的碱基改变的个体做进一步的听力学分析。结果军事噪声易感者和耐受者的线粒体基因存在一定差异,线粒体COII基因T7684C和G7853A两个位点的变化只存在于易感组,两组间有显著性差异(P<0.05)。A827G、T961insC(异质)、T1005C、T1095C、G7444A等可能与耳聋相关的线粒体基因改变多见于易感组,耐受组也有分布。结论携带线粒体COII基因T7684C和G7853A碱基变化的个体可能对军事噪声更加易感。
Objective To study the relationship between genetic variation of mitochondrial gene and genetic susceptibility to military noise hearing loss, and to provide evidence for molecular diagnosis of susceptible individuals. Methods A total of 1032 cases of 406 tank soldiers and 626 artillery units exposed to military noise in Yunnan were investigated for hearing loss. 82 cases of military noise-susceptible (susceptible group) and 40 cases of tolerable (resistant group) were collected. Total 122 cases. Peripheral venous blood samples were collected, DNA was extracted from leukocytes, PCR amplification of mitochondrial DNA and non-syndromic deafness-related mutations in the hot spots, gene sequencing comparison analysis, the two groups in the presence of base changes in the distribution of loci Number of cases. A further audiological analysis of individuals in the sequencing results who had a base change associated with deafness. Results There was a difference in the mitochondrial genes between susceptible and tolerant military noises. The changes of mitochondrial COII gene T7684C and G7853A only existed in susceptible group, with significant difference between the two groups (P <0.05). A827G, T961insC (heterogeneous), T1005C, T1095C, G7444A and other deafness related mitochondrial genetic changes more common in the susceptible group, tolerable group also distributed. CONCLUSIONS Individuals with changes in the bases of the mitochondrial COII genes T7684C and G7853A may be more susceptible to military noise.