Hu Chun-Ting, Yan Jiang-Wei, Chen Feng, Zhang Qing-Xia, Wang Hong-Dan, Yin Cai-Yong, Fan Han-Ting, Hu Ling-Li, Shen Chun-Mei, Meng Hao-Tian, Zhang Yu-Dang, Wang Hui, Zhu Bo-Feng
Neurology Department of Cadre's Ward, 2nd Affiliated Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi Province, PR China.
Beijing Institute of Genomics, Chinese Academy of Science, Beijing, PR China.
Gene. 2016 Jan 15;576(1 Pt 1):105-8. doi: 10.1016/j.gene.2015.09.071. Epub 2015 Sep 30.
SNaPshot minisequencing is a rapid and robust methodology based on a single base extension with a labeled ddNTP. The present study detected 15 selected SNPs in the mitochondrial DNA (mtDNA) control and coding regions by minisequencing methodology using SNaPshot for forensic purpose. The samples were collected from 99 unrelated individuals of the Yi ethnic minority group in Yunnan Province. We have predominantly found high-frequency transitions (91.7%) and a significantly lower frequency of transversions (8.3%). The nt152, 489, 8701, 10,398, 16,183, and 16,362 loci were highly polymorphic, while the nt231, 473 and 581 loci were not polymorphic in the studied population. Based on these 15 SNPs, a total of 28 mtDNA haplotypes were defined in 99 individuals with the haplotype diversity of 0.9136. Also, we compared the mtDNA sequences of Yi group and other 9 populations worldwide and drew a Neighbor-Joining tree based on the shared 12 mtDNA SNP loci, which demonstrated a close relationship between Yi and Bai groups. In conclusion, the analysis of the 15 selected SNPs increases considerably the discrimination power of mtDNA. Moreover, the SNaPshot minisequencing method could quickly detect mtDNA SNPs, and is economical and sensitive. The set of selected 15 SNPs is highly informative and is capable for anthropology genetic analysis.
SNaPshot微测序是一种基于用标记的双脱氧核苷酸进行单碱基延伸的快速且可靠的方法。本研究采用SNaPshot微测序方法，出于法医鉴定目的，检测了线粒体DNA（mtDNA）控制区和编码区的15个选定单核苷酸多态性（SNP）。样本采集自云南省99名无关的彝族个体。我们主要发现高频转换（91.7%）和明显较低频率的颠换（8.3%）。nt152、489、8701、10398、16183和16362位点高度多态，而nt231、473和581位点在所研究人群中无多态性。基于这15个SNP，在99个个体中总共定义了28种mtDNA单倍型，单倍型多样性为0.9136。此外，我们比较了彝族群体与全球其他9个群体的mtDNA序列，并基于共享的12个mtDNA SNP位点绘制了邻接树，结果表明彝族与白族群体关系密切。总之，对15个选定SNP的分析显著提高了mtDNA的鉴别能力。此外，SNaPshot微测序方法能够快速检测mtDNA SNP，且经济灵敏。选定的这组15个SNP信息丰富，可用于人类学遗传分析。
