Comparison of base composition analysis and Sanger sequencing of mitochondrial DNA for four US population groups
Comparison of base composition analysis and Sanger sequencing of mitochondrial DNA for four US population groups
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DOI：
10.1016/j.fsigen.2013.10.003
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发表时间：
2014-01-01
影响因子：
3.1
通讯作者：
Vallone, Peter M.
中科院分区：
文献类型：
--
作者：
Kiesler, Kevin M.;Coble, Michael D.;Vallone, Peter M.
一组来自四个美国人口群体的711个样本使用一种新的基于质谱的方法进行线粒体DNA （mtDNA）碱基组成分析。质谱分析结果与Sanger测序数据的一致性为99.97%。在质谱和桑格数据集中，46%的样品存在长度异质性，6.6%的样品存在点异质性。以区分能力为衡量标准，全对照区Sanger测序的区分能力最高，质谱碱基组成法次之，比仅高变区Sanger测序的区分能力更强。这一趋势与三种分析方法中每一种所涵盖的核苷酸数量一致。爱思唯尔爱尔兰有限公司出版。
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. Published by Elsevier Ireland Ltd.