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首页> 外文期刊>International Journal of Molecular Epidemiology and Genetics >Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss
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Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss

机译：在非综合征性感音神经性听力损失的埃及患者中筛查线粒体A1555G突变

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Background & Aim: Hearing loss is the most frequent form of neurosensory deficit in humans. Although the majority of hereditary hearing loss is due to nuclear gene mutations, it has become clear the significant contribution of mitochondrial genes. The first mitochondrial mutation shown to cause non-syndromic hearing loss in humans was the A1555G mutation in the small ribosomal RNA gene (12S rRNA). It has been detected in hundreds of families of different ethnic backgrounds, making it one of the prevalent genetic causes of hearing loss currently identified. However, there are major differences between ethnic groups regarding the frequency of this mutation. Few studies have been made in Arab countries, especially in Egypt. Here we report the prevalence of the mitochondrial mutation A1555G among patients with non-syndromic hearing loss (NSHL) and in healthy individuals with normal hearing in the Egyptian population. Subjects & Methods: The study was conducted on 97 patients with SNHL and 300 unrelated healthy Egyptian individuals, with normal hearing, as normal control subjects. Polymerase chain reaction followed by restriction enzyme digestion was used to screen the DNA samples of all subjects for the A1555G mutation. Results: Participants included 97 cases with SNHL, 46 males and 51 females. Their ages ranged from 1 month to 65 years with the mean age 6.2 years (SD ± 8.2). Paternal consanguinity was reported in 46% (35/76) of the studied families. The A1555G mutation was found in one of the 97 patients (1.3%), while it has not been detected in the 300 control samples. Conclusion: Our findings indicate that, even in absence of exposure to aminoglycosides, the mitochondrial A1555G mutation is one of the potential causes of non-syndromic SNHL in the Egyptian population.
机译：背景＆＃x00026;目的：听力损失是人类最常见的神经感觉缺陷。尽管大多数遗传性听力丧失是由于核基因突变引起的，但已经清楚的是线粒体基因的重大贡献。导致人类非综合征性听力损失的第一个线粒体突变是小核糖体RNA基因（12S rRNA）中的A1555G突变。它已在数百个不同种族背景的家庭中被检测到，使其成为目前确定的听力丧失的普遍遗传原因之一。但是，种族之间在此突变的频率方面存在主要差异。在阿拉伯国家，特别是在埃及，很少进行研究。在这里，我们报告了埃及人群中非综合征性听力损失（NSHL）患者和听力正常的健康个体中线粒体突变A1555G的患病率。主题＆＃x00026;方法：本研究针对97名SNHL患者和300名听力正常的健康埃及无关个体作为正常对照对象。使用聚合酶链反应，然后进行限制性酶消化来筛选所有受试者的DNA样品中的A1555G突变。结果：参与者包括97例SNHL，男性46例，女性51例。他们的年龄从1个月到65岁不等，平均年龄为6.2岁（SD＆＃x000b1; 8.2）。据报道，有46％（35/76）的家庭有父系血缘关系。在97名患者中的一位患者中发现了A1555G突变（1.3％），而在300例对照样品中未发现。结论：我们的发现表明，即使不暴露于氨基糖苷类，线粒体A1555G突变也是埃及人群中非综合征性SNHL的潜在原因之一。

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