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首页> 外文期刊>Balkan journal of medical genetics: BJMG >THE MITOCHONDRIAL COI/tRNA(SER(UCN)) G7444A MUTATION MAY BE ASSOCIATED WITH HEARING IMPAIRMENT IN A HAN CHINESE FAMILY
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THE MITOCHONDRIAL COI/tRNA(SER(UCN)) G7444A MUTATION MAY BE ASSOCIATED WITH HEARING IMPAIRMENT IN A HAN CHINESE FAMILY

机译：线粒体COI / TRNA（SER（UCN））G7444A突变可能与汉族家庭中的听力障碍有关

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摘要

Variations in mitochondrial genome have been found to be associated with hearing loss. Of these, the mitochondrial 12S rRNA and tRNASer(UCN) are the hot-spots for pathogenic variants associated with deafness. To understand the putative role of mitochondrial DNA (mtDNA) variants in hearing loss, we recently screened the variants in mitochondrial genomes in patients with deafness from the Hangzhou area of Zhejiang Province, People's Republic of China (PRC). In this study, we describe a maternallyinherited Han Chinese family with high penetrance of hearing loss, notably, the penetrance of hearing loss in this family were 80.0 and 40.0%, when the aminoglycoside was included or excluded. Three matrilineal relatives in this pedigree exhibited different levels of hearing loss with different age at onset. In addition, sequence analysis of the complete mitochondrial genome showed the presence of the well-known C1494T pathogenic variant in the 12S rRNA gene and the G7444A pathogenic variant in the COI/tRNASer(UCN). The C1494T anomaly had been reported to be a pathogenic mutation associated with aminoglycosideinduced and nonsyndromic hearing loss (AINHL), while the G7444A was considered as a secondary mutation associated with deafness. However, the lack of functional variants in GJB2 and TRMU genes suggested that nuclear modified genes may not play important roles in deafness expression. Thus, the combination of G7444A and C1494T pathogenic variants in the mitochondrial genome may account for the high penetrance of hearing loss in this Chinese family.
机译：已发现线粒体基因组的变化与听力损失有关。其中，线粒体12s rRNA和Trnaser（UCN）是与耳聋相关的致病变体的热点。要了解线粒体DNA（MTDNA）变异在听力损失中的推定作用，我们最近筛选了来自中华人民共和国浙江省杭州地区耳聋的线粒体基因组的变体（中国）。在这项研究中，我们描述了一种母婴训练汉族，汉族人和听力损失高，特别是，当包括氨基糖苷类或排除氨基糖苷类时，该家庭的听力损失的渗透率为80.0％和40.0％。该血统中的三个母膜膜亲属表现出不同年龄的术语表现出不同程度的听力损失。此外，完全线粒体基因组的序列分析显示在12S rRNA基因和COI / Trnaser（UCN）中的12S rRNA基因和G7444A病原变体中存在众所周知的C1494T病原变体。据报道，C1494T异常是与氨基糖苷诱导的致病性突变和不健康的听力损失（AINHL）相关的致病性突变，而G7444A被认为是与耳聋相关的二次突变。然而，GJB2和TRMU基因中缺乏功能变体表明核改性基因可能在耳聋表达中可能不会发挥重要作用。因此，在线粒体基因组中G7444A和C1494T的致病变体的组合可能会考虑在这家中国家庭中听力损失的高渗透率。

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