Development and Performance Evaluation of a Novel Ancestry Informative DIP Panel for Continental Origin Inference.

Yongsong Zhou,Buling Wu,Bofeng Zhu,Xiaoye Jin

doi:10.3389/fgene.2021.801275

Abstract

Ancestry informative markers (AIMs) are useful to infer individual biogeographical ancestry and to estimate admixture proportions of admixed populations or individuals. Although a growing number of AIM panels for forensic ancestry origin analyses were developed, they may not efficiently infer the ancestry origins of most populations in China. In this study, a set of 52 ancestry informative deletion/insertion polymorphisms (AIDIPs) were selected with the aim of effectively differentiate continental and partial Chinese populations. All of the selected markers were successfully incorporated into a single multiplex PCR panel, which could be conveniently and efficiently detected on capillary electrophoresis platforms. Genetic distributions of the same 50 AIDIPs in different continental populations revealed that most loci showed high genetic differentiations between East Asian populations and other continental populations. Population genetic analyses of different continental populations indicated that these 50 AIDIPs could clearly discriminate East Asian, European, and African populations. In addition, the 52 AIDIPs also exhibited relatively high cumulative discrimination power in the Eastern Han population, which could be used as a supplementary tool for forensic investigation. Furthermore, the Eastern Han population showed close genetic relationships with East Asian populations and high ancestral components from East Asian populations. In the future, we need to investigate genetic distributions of these 52 AIDIPs in Chinese Han populations in different regions and other ethnic groups, and further evaluate the power of these loci to differentiate different Chinese populations.

Highlights

Ancestry informative markers (AIMs) refer to genetic variations that exhibit high allelic frequency divergences between different ancestral populations (Phillips et al, 2007)
The 52 ancestry informative deletion/insertion polymorphisms (AIDIPs) loci were laid out in blue (FAM), green (HEX), yellow (TAMRA), and red (ROX) dye channels according to dye color and expected amplicon size (Table 1)
Compared with AIDIP panels previously reported (Santos et al, 2010; Pereira et al, 2012b; Sun et al, 2016; Lan et al, 2019), the assay developed in this study involved a higher number of AIDIP loci in a single PCR reaction system

Summary

Introduction

Ancestry informative markers (AIMs) refer to genetic variations that exhibit high allelic frequency divergences between different ancestral populations (Phillips et al, 2007). A growing number of AIM panels to estimate ancestry origin of continental and subcontinental populations (Santos et al, 2016a; Wei et al, 2016; Carvalho Gontijo et al, 2020; Xavier et al, 2020) or to distinguish population structure of Asian or Chinese populations (Sun et al, 2016; Jin et al, 2019; Qu et al, 2019) were developed by forensic researchers from abroad and in China, respectively. AIM reference population data in most Chinese populations are still undeveloped to date, which limit population-specific marker selections to some extent. We need to investigate genetic distributions of more AIMs in Chinese populations. These data can enrich the genetic information resources of Chinese population, and facilitate the screening of population specific molecular markers

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Methods

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Conclusion