Genetic variation and forensic characterization of highland Tibetan ethnicity reveled by autosomal STR markers

Abstract

Understanding the origin and genetic background of Chinese high-altitude Tibetans play a pivotal role in medical genetics, archeology, anthropology, and forensics. In this study, to investigate the forensic characterization and genetic diversity of Chinese Tibetan, allele frequencies and corresponding forensic statistical parameters of 15 autosomal STRs included in the AmpFℓSTR® Sinofiler™ kit were obtained from 1220 Tibetan individuals residing in Lhasa country, Tibet Autonomous Region. We identified 191 alleles with corresponding allele frequencies varied from 0.0004 to 0.3984. The combined probability of discrimination and the combined probability of exclusion are 0.9999999999999999997 and 0.9999996, respectively. Our study provided the valuable dataset for forensic individual identification and parentage testing in the high-altitude Tibetan population. In addition, comprehensive population comparisons among 30 Chinese populations via PCA, AMOVA, MDS, and N-J tree demonstrated that the genetic components of Tibet Tibetan have received gene introgression from surrounding lowland populations (Such as Gansu Hui and Yunnan Bai) and Tibetan keeps the close genetic relationship with geographic neighboring populations.

Population Genetic Diversity and Phylogenetic Characteristics for High-Altitude Adaptive Kham Tibetan Revealed by DNATyperTM 19 Amplification System

“…999997 in the Liangshan Tibetan and 0.9999999999999999993 and 0.999999 in the Liangshan Yi (He et al, 2018f). Simultaneously, the discrimination and exclusion powers of this new-developed system in the Kham Tibetan are better than the previously wide-used AmpFlSTR ® Sinofiler TM kit, in which CPD and CPE values in 1,220 Tibetans are 0.9999999999999999997 and 0.9999996, respectively (He et al, 2018c). Moreover, the forensic efficiency is also better than 19 X-chromosomal STRs included in the AGCU X19 kit in the Tibetan population (He et al, 2018a).…”

“…Additionally, many whole-genome genetic studies have identified that the genetic basis of variations in EPAS1 and EGLN seems to be involved in high altitude adaptation of Tibetans and the corresponding adaptive haplotypes (AGGAA) in the EPAS1 gene are obtained by introgression from Denisovan archaic hominin (Huerta-Sanchez et al, 2014). There are also too many other genetic, linguistic and archeological studies which isolated or combined to reconstruct the complex genetic origin, admixture, divergence with the surrounding populations (Lu et al, 2016; Hu et al, 2017; Zhang et al, 2017; He et al, 2018a,c,f). However, existing genetic data are not sufficient to explore the genetic variations and features of the forensic related markers of Tibetans with different origins and cultural background (Ü-Tsang, Kham and Ando Tibetans).…”

Genomic history and forensic characteristics of Sherpa highlanders on the Tibetan Plateau inferred from high-resolution InDel panel and genome-wide SNPs

“…Our results revealed a potential unique genetic architecture of Dingjie Sherpas, which would be further explored and discussed in the subsequent population admixture history reconstruction. Deviations from LE of autosomal STRs and SNPs in the highland East Asians were also observed in previous studies [48,49]. Thus, considering the patterns of the observed LD in Dingjie Sherpas, we subsequently estimated the combined forensic parameters both on the pruned marker set (48 A-InDels) and all 57 A-InDels.…”

Genetic polymorphism and phylogenetic differentiation of the Huaxia Platinum System in three Chinese minority ethnicities

“…Three minority ethnicities, the Hui, Tibetan and Uygur, have always been a hot topic in research by linguists, anthropologists, archaeologists and population geneticists 10,17,45,46 . However, the limited genetic research of the three populations in China is far from sufficient.…”

“…The phylogenetic tree based on the neighbor-joining method was delineated in the Molecular Evolutionary Genetics Analysis v7.0 (MEGA v7.0) software 44 . The genetic distribution of 11 populations was conducted using STRUCTURE v.2.3.4 software 46 , for which the parameters were a100,000 lenth of burnin period after 100,000 steps for the Markov Chain Monte Carlo (MCMC) using the standard admixture model, five independent runs for each K value and K values from 2 to 7.…”