【摘要】： 目的:在以往大量研究顯示耳聾與線粒體基因突變有密切關(guān)系的基礎(chǔ)上,研究軍事噪聲性聽力損失遺傳易感性與線粒體基因變異的關(guān)系,為確定噪聲易感個(gè)體的分子診斷方法,尋找預(yù)防和治療軍事噪聲性聽力損失的途徑提供依據(jù)。 方法:對(duì)云南某部接觸軍事噪聲的406名坦克兵,626名炮兵,共計(jì)1032例進(jìn)行聽力損失情況調(diào)查,收集軍事噪聲易感者82例,耐受者40例,共計(jì)122例。分別采集外周靜脈血標(biāo)本,從白細(xì)胞中提取DNA,PCR擴(kuò)增線粒體DNA 12S rRNA、tRNA Val、16S rRNA、COⅠ、S(UCN)、tRNA Asp和COⅡ基因等與耳聾相關(guān)的熱點(diǎn)突變部分片段,進(jìn)行基因測(cè)序比對(duì)分析。結(jié)果用SPSS11.5軟件進(jìn)行統(tǒng)計(jì)學(xué)分析。 結(jié)果:122份DNA樣本進(jìn)行PCR擴(kuò)增,均擴(kuò)增出特征性的條帶,與預(yù)期結(jié)果相符�；蛐蛄蟹治鲲@示,軍事噪聲易感者和耐受者的線粒體基因存在一定的差異,在檢測(cè)到的共76種堿基改變中,有41種只分布在實(shí)驗(yàn)組,17種只分布在對(duì)照組,29種堿基改變未見報(bào)道。線粒體COⅡ基因T7684C和G7853A兩個(gè)位點(diǎn)的變化只分布在實(shí)驗(yàn)組,在兩組間存在統(tǒng)計(jì)學(xué)差異(P＜0.05)。A827G、T961insC(異質(zhì))、T1005C、T1095C、G7444A等文獻(xiàn)報(bào)道可能與耳聾相關(guān)的線粒體基因改變?cè)诒狙芯恐幸嘤邪l(fā)現(xiàn),多數(shù)分布在實(shí)驗(yàn)組,對(duì)照組也有分布。 結(jié)論:本研究發(fā)現(xiàn)線粒體COⅡ基因T7684C和G7853A兩個(gè)位點(diǎn)的堿基變化可能與軍事噪聲性聽力損失的遺傳易感性有關(guān),很可能是軍事噪聲性聽力損失的標(biāo)簽SNP。我們推測(cè)攜帶這兩種堿基改變的個(gè)體在接觸軍事噪聲后更容易發(fā)生聽力損失,值得進(jìn)一步深入研究。線粒體單一位點(diǎn)基因改變可能與線粒體的單倍體型、核基因和環(huán)境因素等共同作用影響耳聾的表型,不同耳聾類型可能有相同的基因改變。
[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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