Development of Multiple Assays using 46 SNPs for Comprehensive mtDNA Haplogrouping and Application to Highly Degraded DNA.
Development of Multiple Assays using 46 SNPs for Comprehensive mtDNA Haplogrouping and Application to Highly Degraded DNA.
复制标题
开发使用 46 个 SNP 进行综合 mtDNA 单倍群分析的多重检测方法及其在高度降解 DNA 中的应用。
DOI：
10.1111/1556-4029.12961
复制
发表时间：
2016
期刊：
影响因子：
1.6
通讯作者：
Asamura H.
中科院分区：
文献类型：
--
作者：
Nunotani M;Sato N;Kamei S;Shiozaki T;Takatsu K;Hayashi T;Asamura H.
设计了6个多重PCR系统，利用单碱基延伸反应分析46个线粒体DNA （mtDNA）编码区单核苷酸多态性（snp），这些多态性定义了42个单倍群，即24个主要的mtDNA单倍群和18个亚支系。为了提高所建立的系统对降解DNA样本分析的有效性，设计了新的引物来呈现大小<150 bp的扩增子。将该系统应用于214个日本个体，发现24个不同的单倍群（辨别力= 93.4%）。为了评估我们的系统在分类降解DNA方面的有效性，我们分析了一个古代绳纹骨骼样本，然后将其归类为单倍群N9b。我们的结论是，目前的系统是强大的筛选工具，除了主要的单倍群mtDNA和流行的亚单倍群在日本人口中，这些系统能够分析高度降解的DNA样本在法医研究。
Six multiplex PCR systems using single‐base extension reactions to analyze 46 mitochondrial DNA (mtDNA)‐coding region single nucleotide polymorphisms (SNPs) that define 42 haplogroups, that is, 24 major mtDNA haplogroups and 18 subclades, were devised. To improve the usefulness of the established systems for the analysis of degraded DNA samples, novel primers to render amplicons with sizes <150 bp were designed. By applying these systems to 214 Japanese individuals, 24 different haplogroups (power of discrimination = 93.4%) were found. To assess the effectiveness of our systems in grouping degraded DNA, an ancient bone sample of a Jomon skeleton was analyzed and then classified as haplogroup N9b. We conclude that the present systems are powerful screening tools for major haplogroups of mtDNA in addition to the prevalent subhaplogroups in the Japanese population and that these systems are capable of analyzing highly degraded DNA samples in forensic studies.