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首页> 外文期刊>Genetic testing and molecular biomarkers >Large-Scale Screening of Mitochondrial DNA Mutations Among Iranian Patients with Prelingual Nonsyndromic Hearing Impairment
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Large-Scale Screening of Mitochondrial DNA Mutations Among Iranian Patients with Prelingual Nonsyndromic Hearing Impairment

机译：线粒体DNA的大规模筛选突变在伊朗Prelingual患者Nonsyndromic听力障碍

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摘要

Hereditary hearing impairment (HI) is a genetically heterogeneous disorder caused by mutations either in nuclear DNA (nDNA) or in mitochondrial DNA (mtDNA). The nDNA mutations account for the majority of prelingual nonsyndromic HI (NSHI). The present survey was conducted to screen for known pathogenic mtDNA mutations including A1555G, A3243G, C1494T, and A7445G to provide an accurate estimate of their prevalence in prelingual NSHI for the first time in the Iranian subpopulations. One thousand unrelated probands with NSHI (including both GJB2-negative and GJB2 heterozygote cases) and 1000 healthy matched controls were investigated using the PCR/RFLP method followed by DNA sequencing to confirm the observed mtDNA mutations. Two of the studied mutations, namely A3243G and A7445G, were each found in a single family (a frequency of 0.1% for each). Mutation screening for A3243G followed by DNA sequencing led to the identification of G3316A substitution, with no prior link to HI. Surprisingly, screening for A3243G in the studied population identified 6 cases (0.6%) in probands and 10 (1%) in normal subjects. A1555G, the most common mtDNA mutation associated with deafness in other populations, was not found in the studied samples. To conclude, our findings indicate G3316A as a nonpathogenic variant in the prelingual NSHI subpopulations of Iran and suggest that mtDNA mutations do not play a major role in the etiology of NSHI in Iran.
机译：遗传性听力障碍(你好)遗传异质性疾病所致在核DNA (nDNA)或突变线粒体DNA (mtDNA)。占大多数的prelingualnonsyndromic嗨(NSHI)。为已知的致病mtDNA屏幕进行A3243G突变包括A1555G, C1494T,他们的A7445G提供一个准确的估计患病率在prelingual NSHI首次在伊朗的亚种。与NSHI渊源者(包括无关GJB2-negative和GJB2杂合子)和病例1000名健康匹配控制利用PCR - RFLP方法DNA紧随其后测序确认观察mtDNA突变。A3243G A7445G,都发现在一个家庭(0.1%)的频率。筛查A3243G DNA测序紧随其后识别了G3316A替换,之前没有链接到嗨。研究人口的A3243G确认6例(0.6%)在正常的渊源者10例(1%)科目。与其他人群,耳聋没有研究样本中发现的。最后,我们的研究结果表明G3316A作为不致病的变体在prelingual NSHI亚种群mtDNA的伊朗和建议突变不扮演重要的角色在伊朗的NSHI病因。

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