Abstract

Ancestry informative markers are genetic markers that show distinct genetic divergences among different populations. These markers can be utilized to discern population substructures and estimate the ancestral origins of unknown individuals. Previously, we developed a multiplex system of 30 ancestry informative single nucleotide polymorphism (AISNP) loci to facilitate ancestral inferences in different continental populations. In the current study, we first compared the ancestry resolutions of the 30 AISNPs and the other previously reported AISNP panels for African, European, East Asian, South Asian and American populations. Next, the genetic components of the Xinjiang Hui group were further explored in comparison to these continental populations based on the 30 AISNPs. Genetic divergence analyses of the 30 AISNPs in these five continental populations revealed that most of the AISNPs showed high genetic differentiations between these populations. Ancestry analysis comparisons of the 30 AISNPs and other published AISNPs revealed that these 30 AISNPs had comparable efficiency to other AISNP panels. Genetic relationship analyses among the studied Hui group and other continental populations demonstrated that the Hui group had close genetic affinities with East Asian populations and might share the genetic ancestries with East Asian populations. Overall, the 30 AISNPs can be used to predict the bio-geographical origins of different continental populations. Moreover, the obtained genetic data of 30 AISNPs in the Hui group can further enrich the extant reference data, which can be used as reference data for ancestry analyses of the Hui group.

Highlights

  • A bio-geographical origin analysis can determine the population substructures in a genome-wide association study [1]

  • Depth of coverage (DOC) that is the number of sequencing target regions is usually used as the metric to evaluate the data generated from massively parallel sequencing

  • We detected the genetic profiles of 30 ancestry informative single nucleotide polymorphism (AISNP) in the Hui group using the Next generation sequencing (NGS)

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Summary

Introduction

A bio-geographical origin analysis can determine the population substructures in a genome-wide association study [1]. This type of analysis has wide applications in forensic research. Phillips et al developed a multiplex SNP panel for the ancestral analyses of three continental populations (African, European and East Asian) based on the SNaPshot method [4]. They replaced the SNP locus (rs727811) with a highly informative SNP locus (rs3827760)

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