Highlights
- •316 individuals from Sinitic/Tai-Kadai populations were analyzed by 165 AISNPs.
- •Qiongzhong Hlai is the primary ancestry source of Tai-Kadai-speaking populations.
- •More population-specific AIM sets focused on East Asian subpopulations are needed.
Abstract
Ancestry informative markers (AIMs), which are distributed throughout the human genome,
harbor significant allele frequency differences among diverse ethnic groups. The use
of sets of AIMs to reconstruct population history and genetic relationships is attracting
interest in the forensic community, because biogeographic ancestry information for
a casework sample can potentially be predicted and used to guide the investigative
process. However, subpopulation ancestry inference within East Asia remains in its
infancy due to a lack of population reference data collection and incomplete validation
work on newly developed or commercial AIM sets. In the present study, 316 Chinese
persons, including 85 Sinitic-speaking Haikou Han, 120 Qiongzhong Hlai and 111 Daozhen
Gelao individuals belonging to Tai-Kadai-speaking populations, were analyzed using
the Precision ID Ancestry Panel (165 AISNPs). Combined with our previous 165-AISNP
data (375 individuals from 6 populations), the 1000 Genomes Project and forensic literature,
comprehensive population genetic comparisons and ancestry inference were further performed
via ADMIXTURE, TreeMix, PCA, f-statistics and N-J tree. Although several nonpolymorphic loci were identified in
the three southern Chinese populations, the forensic parameters of this ancestry inference
panel were better than those for the 23 STR-based Huaxia Platinum System, which is
suitable for use as a robust tool in forensic individual identification and parentage
testing. The results based on the ancestry assignment and admixture proportion evaluation
revealed that this panel could be used successfully to assign individuals at a continental
scale but also possessed obvious limitations in discriminatory power in intercontinental
individuals, especially for European-Asian admixed Uyghurs or in populations lacking
reference databases. Population genetic analyses further revealed five continental
population clusters and three East Asian-focused population subgroups, which is consistent
with linguistic affiliations. Ancestry composition and multiple phylogenetic analysis
further demonstrated that the geographically isolated Qiongzhong Hlai harbored a close
phylogenetic relationship with Austronesian speakers and possessed a homogenous Tai-Kadai-dominant
ancestry, which could be used as the ancestral source proxy in population history
reconstruction of Tai-Kadai-speaking populations and as one of the representatives
for forensic database establishment. In summary, more population-specific AIM sets
focused on East Asian subpopulations, comprehensive algorithms and high-coverage population
reference data should be developed and validated in the next step.
Keywords
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Article info
Publication history
Published online: February 02, 2021
Accepted:
January 20,
2021
Received in revised form:
December 6,
2020
Received:
May 3,
2020
Identification
Copyright
© 2021 Elsevier B.V. All rights reserved.
