Abstract
Predicting the biogeographical ancestries of populations and unknown individuals based on ancestry-informative markers (AIMs) has been widely applied in providing DNA clues to criminal investigations, correcting the factor of population stratification in genome-wide association studies (GWAS), and working as the basis of predicting the externally visible characteristics (EVCs) of individuals. The present study chose Chinese Xinjiang Kazak (XJK) group as research object using a 165 AIM-SNPs panel via next generation sequencing (NGS) technology to reveal its ancestral information and genetic background by referencing the populations’ data from 1000 Genomes Phase 3. After the Bonferroni correction, there were no significant deviations at the 165 AIM-SNP loci except two loci with homozygote in the studied XJK group. Ancestry information inference and populations genetic analyses were conducted basing on multiplex statistical methods such as forensic statistical parameter analyses, estimation of the success ratios with cross-validation, population tree, principal component analysis (PCA), and genetic structure analysis. The present results revealed that XJK group had the admixed ancestral components of East Asian and European populations with the ratio of about 62:37.
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Acknowledgements
This project was supported by the National Natural Science Foundation of China (NSFC, No. 81525015, 81471824), GDUPS (2017). The authors sincerely thank all the volunteers for providing blood samples.
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This study was conducted in accordance with the human and ethical research principles of Southern Medical University and Xi’an Jiaotong University, and the ethical approvals were given by Ethics Committee of Southern Medical University and Xi’an Jiaotong University. All the volunteers had given their written informed consents before involved in this study. Besides, the blood samples were obtained according to the standard procedure.
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Xie, T., Shen, C., Liu, C. et al. Ancestry inference and admixture component estimations of Chinese Kazak group based on 165 AIM-SNPs via NGS platform. J Hum Genet 65, 461–468 (2020). https://doi.org/10.1038/s10038-020-0725-y
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DOI: https://doi.org/10.1038/s10038-020-0725-y
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