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- W3030256907 abstract "目的 通过对一个遗传性听神经病家系进行线粒体DNA全序列分析,为确定其遗传方式提供分子基础.方法 选择一个4代11人的听神经病核心家系为研究对象,对现存9名成员及40例散发聋患者外周血DNA进行12 S rRNA(nt1095)聚合酶链反应(PCR)扩增,以及对一例患者进行线粒体DNA全序列PCR扩增.扩增产物通过基因测序进行突变检测和分析.结果 所有研究对象的基因区域均扩增成功.9名家系成员及40例散发聋个体12 S rRNA(nt1095)突变检测均为阴性.对一例患者线粒体DNA全序列分析发现了一系列单核苷酸多态性位点,以及一个位于MT-CO1区的nt6251 T→C转换,后者为一同义突变.结论 该家系成员不存在线粒体DNA 12 S rRNAT1095C突变,对线粒体DNA全序列分析也未发现有意义的突变位点.结合临床特征和家系谱患者传递规律,确定该家系遗传方式为常染色体显性遗传。" @default.
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- W3030256907 date "2006-07-23" @default.
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- W3030256907 title "Whole mitochondrial DNA analysis of one auditory neuropathy family" @default.
- W3030256907 doi "https://doi.org/10.3760/j.issn:1006-7876.2006.07.004" @default.
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