Highlights
- •We developed a multiplex system of 308 AISNPs for East Asian ancestry inference using the NGS technology.
- •The new panel could be used for continental and East Asian ancestry inference.
- •Han Chinese, Korean minorities, and Japanese have different ancestry information.
- •The panel could be used for forensic investigations, population genetics, and clinic applications.
Abstract
Ancestry inference is useful in many scientific fields, such as forensic genetics,
medical genetics, and molecular archaeology. Various ancestry inferring methods have
been released for major continental populations. However, few reports refer to sub-populations
within the East Asian population using hundreds of ancestry informative SNPs (AISNPs).
In this study, we developed a 308-AISNP panel (EASplex NGS DNA panel) using multiplex
PCR and next generation sequencing (NGS). This panel included 56 SNPs relevant for
the continent-level ancestry inference and 252 Japanese-, Korean-, and/or Han Chinese-specific
AISNPs to address the ancestry inference of global populations and regional populations
among Japanese (JPT), Korean minority (CHK), and Han Chinese (CHH). A total of 87
CHK and 59 CHH samples were used to check the performance of the EASplex NGS DNA panel.
By analyzing 146 profiles of samples with JPT and CHH data from Beijing and South
China in 1000 genomes project, the following results were obtained: (1) the 146 tested
samples were correctly assigned to the East Asian group; (2) the paired population
assignment rate was 99.73% for JPT and CHH, 95% for JPT and CHK, and 90.11% for CHK
and CHH; and (3) the whole population assignment was 92.14% for the JPT, CHK, and
CHH data. Overall, the EASplex NGS DNA panel displayed informativeness for continental
ancestry inference and regional ancestry inference among JPT, CHH, and CHK and has
the potential for use in forensic and genetic population studies.
Keywords
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Article info
Publication history
Published online: June 09, 2022
Accepted:
June 6,
2022
Received in revised form:
June 2,
2022
Received:
January 7,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
