Palculict Meagan E, Zhang Victor Wei, Wong Lee-Jun, Wang Jing
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Methods Mol Biol. 2016;1351:3-17. doi: 10.1007/978-1-4939-3040-1_1.
Next-generation sequencing (NGS) based on massively parallel sequencing (MPS) of the entire 16,569 bp mitochondrial genome generates thousands of reads for each nucleotide position. The high-throughput sequence data generated allow the detection of mitochondrial DNA (mtDNA) point mutations and deletions with the ability to accurately quantify the mtDNA point mutation heteroplasmy and to determine the deletion breakpoints. In addition, this method is particularly sensitive for the detection of low-level mtDNA large deletions and multiple deletions. It is by far the most powerful tool for molecular diagnosis of mtDNA disorders.
基于对整个16569碱基对线粒体基因组进行大规模平行测序（MPS）的新一代测序（NGS），可为每个核苷酸位置生成数千条读数。所产生的高通量序列数据能够检测线粒体DNA（mtDNA）点突变和缺失，具备准确量化mtDNA点突变异质性以及确定缺失断点的能力。此外，该方法对于检测低水平mtDNA大片段缺失和多重缺失尤为敏感。它是目前用于mtDNA疾病分子诊断的最强大工具。
