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Multiplex genotyping system for efficient inference of matrilineal genetic ancestry with continental resolution

机译:具有大陆分辨率的母系遗传血统有效推断的多重基因分型系统

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Background In recent years, phylogeographic studies have produced detailed knowledge on the worldwide distribution of mitochondrial DNA (mtDNA) variants, linking specific clades of the mtDNA phylogeny with certain geographic areas. However, a multiplex genotyping system for the detection of the mtDNA haplogroups of major continental distribution that would be desirable for efficient DNA-based bio-geographic ancestry testing in various applications is still missing. Results Three multiplex genotyping assays, based on single-base primer extension technology, were developed targeting a total of 36 coding-region mtDNA variants that together differentiate 43 matrilineal haplo-/paragroups. These include the major diagnostic haplogroups for Africa, Western Eurasia, Eastern Eurasia and Native America. The assays show high sensitivity with respect to the amount of template DNA: successful amplification could still be obtained when using as little as 4 pg of genomic DNA and the technology is suitable for medium-throughput analyses. Conclusions We introduce an efficient and sensitive multiplex genotyping system for bio-geographic ancestry inference from mtDNA that provides resolution on the continental level. The method can be applied in forensics, to aid tracing unknown suspects, as well as in population studies, genealogy and personal ancestry testing. For more complete inferences of overall bio-geographic ancestry from DNA, the mtDNA system provided here can be combined with multiplex systems for suitable autosomal and, in the case of males, Y-chromosomal ancestry-sensitive DNA markers.
机译:背景技术近年来,系统地理学研究已经对线粒体DNA(mtDNA)变体的全球分布产生了详尽的了解,并将线粒体DNA系统发育的特定进化枝与某些地理区域联系在一起。但是,仍然缺少用于检测主要大陆分布的mtDNA单倍型的多重基因分型系统,这对于在各种应用中进行有效的基于DNA的生物地理血统测试是理想的。结果开发了基于单碱基引物延伸技术的三种多重基因分型方法,针对总共36个编码区mtDNA变体,它们共同区分了43个母系单倍体/副群。这些包括非洲,西欧亚大陆,东欧亚大陆和美洲原住民的主要诊断单倍群。该测定法对模板DNA的量显示出高灵敏度:仅使用4 pg的基因组DNA仍可成功扩增,该技术适用于中通量分析。结论我们引入了一种有效且灵敏的多重基因分型系统,用于从mtDNA进行生物地理血统推断,从而提供了大陆水平的分辨率。该方法可用于法医,以帮助追踪未知的嫌疑人,以及在人口研究,家谱和个人血统测试中。为了更全面地推断DNA的整体生物地理血统,可以将此处提供的mtDNA系统与用于合适的常染色体的多重系统结合使用,对于男性,则可以使用Y染色体血统敏感的DNA标记。

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