Abstract
The Hazara population across Durand line has experienced extensive interaction with Central Asian and East Asian populations. Hazara individuals have typical Mongolian facial appearances and they called themselves descendants of Genghis Khan’s army. The people who speak the Balochi language are called Baloch. Previously, a worldwide analysis of Y-chromosomal haplotype diversity for rapidly mutating (RM) Y-STRs and with PowerPlex Y23 System (Promega Corporation Madison, USA) kit was created with collaborative efforts, but Baloch and Hazara population from Pakistan and Hazara population from Afghanistan were missing. In the current study, Yfiler Plus PCR Amplification Kit loci were examined in 260 unrelated Hazara individuals from Afghanistan, 153 Hazara individuals, and 111 Balochi individuals from Baluchistan Pakistan. For the Hazara population from Afghanistan and Pakistan overall, 380 different haplotypes were observed on these 27 Y-STR loci, gene diversities ranged from 0.51288 (DYS389I) to 0.9257 (DYF387S1), and haplotype diversity was 0.9992. For the Baloch population, every individual was unique at 27 Y-STR loci; gene diversity ranged from 0.5718 (DYS460) to 0.9371(DYF387S1). Twelve haplotypes were shared between 178 individuals, while only two haplotypes among these twelve were shared between 87 individuals in Hazara populations. Rst and Fst pairwise genetic distance analyses, multidimensional scaling plot, neighbor-joining tree, linear discriminatory analysis, and median-joining network were performed, which shed light on the history of Hazara and Baloch populations. The results of our study showed that the Yfiler Plus PCR Amplification Kit marker set provided substantially stronger discriminatory power in the Baloch population of Pakistan and the Hazara population across the Durand line.
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Acknowledgements
We thank all volunteers who provided material and data for this project, especially Muhammad Rehman and Abulhasan Fawad.
Funding
This study was financially supported by the China Medical University postdoctoral research grant (100/1210619014).
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All participants who were included in this study were unrelated individuals of at least three generations.
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All participants gave their informed consent either orally and with thumbprint (in case they could not write) or in writing after the study aims and procedures were carefully explained to them.
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This collaborative study was approved by the ethical review boards of China Medical University, Shenyang, Liaoning Province, People’s Republic of China (2019/067-P), University of Health Sciences Lahore Pakistan (2017-CMU-1/14), and Ministry of Public Health, Forensic Medicine Directorate, Kabul, Afghanistan (FC-2017–02). All the experimental procedures were performed in accordance with the standards of the Declaration of Helsinki.
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Supplementary Figure 2 Two-dimensional plot from multi-dimensional scaling analysis of Rst-values based on Yfiler haplotypes Ne (JPG 282 KB)
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Supplementary Figure 3 Neighbor-joining tree based on the Fst values between the Baloch population of Pakistan and Hazara populations across the Durand line with reference populations (JPG 2228 KB)
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Supplementary Figure 4 The median-joining network of the Baloch population of Pakistan and Hazara populations across the Durand line based on 20 Y STRs (JPG 173 KB)
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Supplementary Figure 6 LDA Analysis between the Baloch population of Pakistan and Hazara populations across the Durand line, Central Asia, South Asia, Russia, and East Asian populations (JPG 97 KB)
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Supplementary Table 3 Reference Populations from Central, Eastern and South Asia populations selected as reference populations used in LDA, NJ tree and multidimensional scaling (MDS) analysis (XLSX 11 KB)
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Supplementary Table 6 Sequence in the relevant flanking and repeat region of the DYS448 locus for null alleles (XLSX 12 KB)
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Adnan, A., Rakha, A., Nazir, S. et al. Forensic features and genetic legacy of the Baloch population of Pakistan and the Hazara population across Durand line revealed by Y-chromosomal STRs. Int J Legal Med 135, 1777–1784 (2021). https://doi.org/10.1007/s00414-021-02591-2
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DOI: https://doi.org/10.1007/s00414-021-02591-2