National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA.
Forensic Sci Int Genet. 2014 Jan;8(1):226-32. doi: 10.1016/j.fsigen.2013.10.003. Epub 2013 Oct 16.
A set of 711 samples from four U.S. population groups was analyzed using a novel mass spectrometry based method for mitochondrial DNA (mtDNA) base composition profiling. Comparison of the mass spectrometry results with Sanger sequencing derived data yielded a concordance rate of 99.97%. Length heteroplasmy was identified in 46% of samples and point heteroplasmy was observed in 6.6% of samples in the combined mass spectral and Sanger data set. Using discrimination capacity as a metric, Sanger sequencing of the full control region had the highest discriminatory power, followed by the mass spectrometry base composition method, which was more discriminating than Sanger sequencing of just the hypervariable regions. This trend is in agreement with the number of nucleotides covered by each of the three assays.
采用一种基于质谱的新型方法对来自美国四个人群组的 711 个样本进行了线粒体 DNA（mtDNA）碱基组成分析。质谱结果与 Sanger 测序数据的比较显示一致性率为 99.97%。在组合质谱和 Sanger 数据集的 46%的样本中发现了长度异质性，在 6.6%的样本中发现了点异质性。使用判别能力作为度量标准，整个控制区的 Sanger 测序具有最高的判别能力，其次是质谱碱基组成方法，其判别能力优于仅对高变区进行 Sanger 测序。这一趋势与三种检测方法所涵盖的核苷酸数量相对应。
