| Objective:In the northern part of East Asia,the Northern Han,Japanese and Korean people have similar physical features and language habits.The aim of this study is to screen a panel of ancestry informative markers(AIMs)for the three populaitons,and construct ancestry inference algorithm,then develop a multiplex SNP detection system.Finally,we verified and evaluated the discrimination ability and forensic application efficiency of the AIMs panel in the test populations.Methods:Single nucleotide polymorphisms(SNPs)are genetic markers widely used for ancestry inference.In this study,428 SNP loci in 307 individuals of northern Han,Japan and South Korea were collected through databases,literature research,combined with background research such as the evolutionary migration patterns of Japanese and Korean populations.Using STRUCTURE and principal components analysis(PCA)software,we evaluated the population structure and discrimination of the 428 SNP within the three populations in northern East Asia.Second,a multiples SNP detection system was constructed by the next-generation sequencing platform.and then tested 995 samples.Combined with statistical analysis such as likelihood ratio and population components,the population differentiation power of the SNP panel was evaluated.Last,in order to increase the differentiation power of Korean population,we performed conditional genome-wide association analysis(GWAS)to select Korean population specific SNPs.Finally,Based on the two screening methods,we obtained the AIMs panel,and constructed a reference population database and ancestry inference algrithm.The ancestry inference system was tested by 1319 samples to evaluate and population differentiation power within the three populations in the north of East Asia.Results:The STRUCTURE cluster analysis of the three reference populations based on266 SNP showed that there were genetic differences among the northern Han,Japanese and Korean populations.Based on the population matching probability and likelihood ratio,the ancestry inference accuracy of test samples was 88.10%(the concordance rate was 78.93%,and the non-exclusion rate was 9.17%),and the error rate was 11.90%.Conclusion:In conclusion,this study obtained a set of 266 AISNPs that can distinguish three populations in northern East Asia with high discrimination ability and population balance.This AISNPs panel will contribute to the development of the secondary ancestry inference system in East Asia,further enhance the internal discrimination power of East Asian populations,and provide basic data to population genetics study and important clues for forensic investigations in this region. |
