Abstract
Tibetans residing in the high-altitude inhospitable environment have undergone significant natural selection of their genetic architecture. Recently, highly mutational autosomal short tandem repeats were widely used not only in the anthropology and population genetics to investigate the genetic structure and relationships, but also in the medical genetics to explore the pathogenesis of multiple genetic diseases and in the forensic science to identify individual and parentage relatedness. However, genetic variants and forensic efficiency of DNATyperTM 19 amplification system and genetic background of Kham Tibetan remain uncharacterized. Thus, we genotyped 19 forensic genetic markers in 11,402 Kham Tibetans to gain insight into the genetic diversity of Chinese high-altitude adaptive population. Highly discriminating and polymorphic forensic measures were observed, which indicated that this new-developed DNATyper 19 PCR amplification is suitable for routine forensic identification purposes and Chinese national DNA database establishment. Pairwise genetic distances among the comprehensive population comparisons suggested that this high-altitude adaptive Kham Tibetan has genetically closer relationships with lowlanders of Tibeto-Burman-speaking populations (Chengdu Tibetan, Liangshan Tibetan, and Liangshan Yi). Genetic substructure analyses via phylogenetic reconstruction, principal component analysis, and multidimensional scaling analysis in both nationwide and worldwide contexts suggested that the genetic proximity exists along the linguistic, ethnic, and continental geographical boundary. Further studies with whole-genome sequencing of modern or archaic Kham Tibetans would be useful in reconstructing the Tibetan population history.
Highlights
Short tandem repeats (STRs), referred to as microsatellites, are mainly scattered in the noncoding regions of the whole human genome (Gymrek et al, 2017; Willems et al, 2017)
We identified light population stratifications among geographically and genetically different populations due to most individual plots are overlapped in the Principal component analyses (PCA) analyses
He, and polymorphism information content (PIC) values observed in this study indicated that the 18 autosomal STRs are high diversity and polymorphic in the Tibet Kham Tibetan
Summary
Short tandem repeats (STRs), referred to as microsatellites, are mainly scattered in the noncoding regions of the whole human genome (Gymrek et al, 2017; Willems et al, 2017). This most variable genetic marker in the eukaryotic genomes comprises tandem repeat motif of 2–6 base pairs. With the advent of Polymerase Chain Reaction (PCR) in the late 1980s and subsequently tremendous progresses of capillary electrophoresis (CE) and whole-genome sequencing, STRs are broadly used in the disease pathogenesis, genetic diversity, population differentiation, and forensic identification (Willems et al, 2014; Gymrek, 2017). Human population genetic scientists hold the opinions that a large number of factors, such as inbreeding and geographical isolation, migration, gene flow, genetic admixture and population fragmentation, contribute to the genetic diversity of the human genome (Kayser and de Knijff, 2011; Sun et al, 2012). Tishkoff et al (2009) used 848 microsatellites in over 2,500 individuals to characterize the genetic diversity and dissect the population structure across linguistically, geographically and ethnically diverse African populations, as well as reconstruct the complex human evolutionary history
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