BIOMICs Research Group, Lascaray Research Center, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain.
Department of Nutrition and Food Sciences, Faculty of Pharmacy, University of the Basque Country (UPV/EHU), Vitoria-Gasteiz, Spain.
Mitochondrion. 2019 Mar;45:46-51. doi: 10.1016/j.mito.2018.02.004. Epub 2018 Feb 21.
This work presents the design, development and optimization of a screening method based on single-base extension sequencing to simultaneously analyze a panel of 52 mitochondrial SNPs. This enables to recognize the main mitochondrial haplogroups and to discriminate even between lineages from the same phylogenetic branch that diverged in different continents. The unavailability of individuals harboring infrequent variants was a limitation to optimize the panel. To overcome this, we have modified DNA by site-directed mutagenesis to create the unavailable allelic variants. This allowed us to verify the reliability of this panel and its usefulness to be applied in biomedicine, forensic and population genetic studies.
本工作提出了一种基于单碱基延伸测序的筛选方法的设计、开发和优化，该方法可同时分析 52 个线粒体单核苷酸多态性。这使得能够识别主要的线粒体单倍群，并甚至能够区分在不同大陆上分化的同一进化枝的谱系。无法获得携带罕见变异的个体是优化该面板的一个限制。为了克服这个问题，我们通过定点诱变修饰了 DNA，以创建不可用的等位基因变异。这使我们能够验证该面板的可靠性及其在生物医学、法医学和群体遗传学研究中的应用价值。
