Genetic Inference Research Of Mongolian Population In Inner Mongolia Of China

Objective:Ancestry inference can provide evidence for case investigation by analyzing the genetic structure of the population and the ancestry inferences of individuals.The purpose of this study was to screen a set of specific SNP loci and establish an prediction model that can distinguish Mongolians from other East Asian subpopulations in Inner Mongolia,China.Methods:A reference population dataset was constructed based on the whole genome SNP data of 163 Mongolian individuals from Inner Mongolia region of China and777 individuals from 13 other populations in China.PLINK and ADMIXTURE software were used to analyze the genetic structure of these populations.Plink software was used for Genome Wide Association Studies to screen Mongolian specific SNPs.The population inference prediction model was constructed based on softmax regression,support vector machine and random forest machine learning algorithms and likelihood ratio.The accuracy of the prediction model was evaluated for reference data and 569 samples in the test data respectively.Results:The Mongolian population is mainly composed of northern East Asian component,and is closely clustered with other Altaic populations.644 SNP loci were selected.The accuracy of machine learning prediction models were up to98.00% in the reference data.The likelihood ratio of all populations in the prediction model reached more than 96.00%.In the test data,the prediction accuracy of Mongolians and non-Mongolians were 86.67% and 95.00%respectively in the model constructed by machine learning.In the model constructed by likelihood ratio calculation,the prediction accuracy of Mongolian population was 86.67%,and that of non-Mongolian population was up to 96.00%.Conclusion:This study indicates that there are genetic structure differences between the Mongolian population and other East Asian subpopulations.The 644 selected AISNP loci can be used for genetic inference between the Mongolian population and other East Asian subpopulations,which is of great significance for improved ancestry inference within East Asia.