A comprehensive exploration of the genetic legacy and forensic features of Afghanistan and Pakistan Mongolian-descent Hazara

Guanglin He; Atif Adnan; Allah Rakha; Hui-Yuan Yeh; Mengge Wang; Xing Zou; Jianxin Guo; Muhammad Rehman; Abulhasan Fawad; Pengyu Chen; Chuan-Chao Wang

doi:10.1016/j.fsigen.2019.06.018

A comprehensive exploration of the genetic legacy and forensic features of Afghanistan and Pakistan Mongolian-descent Hazara

Forensic Sci Int Genet. 2019 Sep:42:e1-e12. doi: 10.1016/j.fsigen.2019.06.018. Epub 2019 Jun 25.

Authors

Guanglin He¹, Atif Adnan², Allah Rakha³, Hui-Yuan Yeh⁴, Mengge Wang⁵, Xing Zou⁵, Jianxin Guo⁶, Muhammad Rehman⁷, Abulhasan Fawad⁷, Pengyu Chen⁸, Chuan-Chao Wang⁹

Affiliations

¹ Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, China; Department of Anthropology and Ethnology, Institute of Anthropology, Xiamen University, Xiamen, 361005, China. Electronic address: Guanglinhescu@163.com.
² Department of Forensic Genetics and Biology, School of Forensic Medicine, China Medical University, Shenyang, 110122, China.
³ Department of Forensic Sciences, University of Health Sciences Lahore, 54000, Pakistan.
⁴ School of Humanities, Nanyang Technological University, Nanyang, 639798, Singapore.
⁵ Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, China.
⁶ Department of Anthropology and Ethnology, Institute of Anthropology, Xiamen University, Xiamen, 361005, China.
⁷ Forensic Medicine Directorat, Ministry of Public Health, Kabul, Afghanistan.
⁸ Center of Forensic Expertise, Affiliated Hospital of Zunyi Medical University, Zunyi, 563099, Guizhou, China; School of Forensic Medicine, Zunyi Medical University, Zunyi, 563099, Guizhou, China. Electronic address: pychenfs@163.com.
⁹ Department of Anthropology and Ethnology, Institute of Anthropology, Xiamen University, Xiamen, 361005, China. Electronic address: wang@xmu.edu.cn.

PMID: 31257046
DOI: 10.1016/j.fsigen.2019.06.018

Abstract

Afghanistan and Pakistan are rich with a complex landscape of culture, linguistics, ethnicity and genetic legacy at the crossroads between Indian-Subcontinent and Central Asia. Hazara people have historically been suggested to be Mongolian decedents but seldom been genetically studied. To dissect the genetic structure and explore the forensic characteristics of Hazara people, we first genotyped 30 Insertion/deletion (Indel) markers in 468 samples from 2 aboriginal Hazara populations from Afghanistan and Pakistan, and 100 East Asian comparative Bouyei samples using the Investigator® DIPplex kit. Subsequently, we carried out a comprehensive population genetic analysis from four different datasets: 8895 30-Indel genotype data from 51 populations, 15,895 30-Indel allele frequency data from 98 populations, 1048 genotypes of 993 STRs and Indels from 53 HGDP populations and 2068 whole-genomes (621,799 single nucleotide polymorphisms) from 165 worldwide Human origin reference populations, to further unravel the genetic complexity between Hazara and worldwide human populations using various statistical analysis. We find that 30 Indels are in accordance with HWE, and informative and polymorphic in both Central Asians Hazara and East Asian Bouyei populations. The forensic combined probability of exclusion is larger than 0.9943 and the cumulative power of discrimination is larger than 0.99999999999936. These forensic parameters show the high level of diversity, which makes the Indel amplification system suitable for forensic routine work and may be used as a supplementary assay for routine forensic investigation. The results from pairwise genetic distances, MDS, PCA, and phylogenetic relationship reconstruction demonstrate that present-day Hazaras are genetically closer to the Turkic-speaking populations (Uyghur, Kazakh, and Kyrgyz) residing in northwest China than with other Central/South Asian populations and Mongolian. Outgroup and admixture f_3,f₄, f₄-ratio, qpWave, and qpAdm results further demonstrate that Hazara shares more alleles with East Asians than with other Central Asians and carries 57.8% Mongolian-related ancestry. Overall, our findings suggest that Hazaras have experienced genetic admixture with the local or neighboring populations and formed the current East-West Eurasian admixed genetic profile after their separation from the Mongolians.

Keywords: Admixture; Bouyei; Forensic characteristics; Genetic structure; Hazara; Indel.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Afghanistan
DNA Fingerprinting
Datasets as Topic
Ethnicity / genetics*
Female
Gene Frequency
Genetic Markers
Genetics, Population*
Genotype
Humans
INDEL Mutation
Male
Microsatellite Repeats
Mongolia
Pakistan
Polymerase Chain Reaction

Substances

Genetic Markers