Genetic structure and forensic characteristics of Tibeto-Burman-speaking Ü-Tsang and Kham Tibetan Highlanders revealed by 27 Y-chromosomal STRs

Abstract

Culturally diverse Tibetans (Ü-Tsang, Kham and Ando) harboring a unique molecular mechanism that allows them to successfully adapt to hypoxic environments in the Qinghai-Tibet Plateau have been a subject of great interest in medical genetics, linguistics, archeology and forensic science. However, forensic characteristics and genetic variations of the Y-chromosomal 27-marker haplotype included in the Yfiler Plus system in the Ü-Tsang and Kham Tibeto-Burman-speaking Tibetans remain unexplored. Thus, we genotyped 27 Y-STRs in 230 Shigatse Ü-Tsang Tibetans (SUT) and 172 Chamdo Kham Tibetans (CKT) to investigate the forensic characterization and genetic affinity of Chinese Tibetan Highlanders. The haplotype diversities were 0.999962028 in SUT and 0.999796002 in CKT. Forensic diversity measures indicated that this 27-Y-STR amplification system is appropriate for routine forensic applications, such as identifying and separating unrelated males in deficiency paternity cases, male disaster victims and missing person identification and determining male components in sexual assault cases. Moreover, the genetic relationships among 63 worldwide populations (16,282 individuals), 16 Asian populations, and 21 Chinese populations were analyzed and reconstructed using principal component analysis, multidimensional scaling plots and a phylogenetic tree. Considerable genetic differences were observed between Tibetan populations and other geographically/ethnically diverse populations (Han Chinese). Our studied SUT and CKT have a genetically closer relationship with Gansu Ando Tibetans than with other Asians. In total, our analyses indicated that subpopulation structures exist among Asian and Chinese populations, and population-specific reference databases should be established for forensic applications.

Massively parallel sequencing of 165 ancestry-informative SNPs and forensic biogeographical ancestry inference in three southern Chinese Sinitic/Tai-Kadai populations

“…Our study did not simulate the Siberian ancestral component, because the original genotype data lacked northern Siberian population data. We also found that northwestern Tibetans in Qinghai Province tended to cluster with the aforementioned Uyghur and Kazakh peoples, which was consistent with the population stratification among culturally diverse Tibetans and western Eurasian affinity of Ando Tibetans in the Ganging region revealed via ancient/modern genome-wide data and Y chromosome genetic variations[22,44].Additionally, we used three TreeMix-based phylogenies to explore the phylogenetic split and potential gene flow events and to verify the patterns of population genetic relationships inferred from the PCA and ADMIXTURE. Among worldwide populations, the Medellin Colombian and Puerto Rican clusters were located between South Asian and European groups.…”

The Y‐STR landscape of coastal southeastern Han: Forensic characteristics, haplotype analyses, mutation rates, and population genetics

“…3C) where bordered the East China Sea, Taiwan Strait, and the South China Sea. In order to assess the degrees of differentiation of CSEH, we collected 50 778 individuals from 166 worldwide populations who belong to nine main language families [21,24,30–32,61–116]. Based on the frequencies of 27 Y‐filer Plus markers, we made a Manhattan distance‐based MDS that indicated that CSEH clustered with populations of southern China in Fig.…”

Insights From Y-STRs: Forensic Characteristics, Genetic Affinities, and Linguistic Classifications of Guangdong Hakka and She Groups

“…The PCA provides a method of visualizing the essential patterns of genetic relationships and allows us to identify and plot the major patterns within a multivariate dataset to indicate that the populations with closer geographical distances have more intimate relationships. We collected the 23 Y-STR frequency profiles of 48,162 individuals from 159 worldwide populations having nine language families within five continents ( Supplementary Table 5 ) to conduct PCA with Guangdong Hakka and She groups ( Yaju et al, 2014 ; Westen et al, 2015 ; Bai et al, 2016b ; Garcia et al, 2016 ; Jung et al, 2016 ; Pickrahn et al, 2016 ; Wang L. et al, 2016 ; Wang Y. et al, 2016 ; Guo et al, 2017 ; Iacovacci et al, 2017 ; Jun et al, 2017 ; Lacerenza et al, 2017 ; Qiang et al, 2017 ; Spolnicka et al, 2017 ; Wang M. et al, 2017 ; Zgonjanin et al, 2017 ; Zhang et al, 2017 ; Cao et al, 2018 ; Fan et al, 2018a , b , c ; Khubrani et al, 2018 ; Liu Y. et al, 2018 ; Juan et al, 2018 ; Liu Y. J. et al, 2018 ; Wang et al, 2018 , 2020 ; Zhou et al, 2018 ; D’Atanasio et al, 2019 ; Fan et al, 2019 ; He et al, 2019 ; Henry et al, 2019 ; Ip et al, 2019 ; Jankova et al, 2019 ; Kai et al, 2019 ; Lang et al, 2019 ; Liu et al, 2019 , 2020 ; Luo et al, 2019 ; Santos Stange et al, 2019 ; Tao et al, 2019a , b ; Wang C. Z. et al, 2019 ; Wang X. et al, 2019 ; Wang Y. et al, 2019 ; Wu et al, 2019 ; Xie et al, 2019 ; Yaju et al, 2019 , 2020 ; Zhabagin et al, 2019 ;…”