Genetic diversity and phylogenetic characteristics of Chinese Tibetan and Yi minority ethnic groups revealed by non-CODIS STR markers

Abstract

Non-CODIS STRs, with high polymorphism and allele frequency difference among ethnically and geographically different populations, play a crucial role in population genetics, molecular anthropology, and human forensics. In this work, 332 unrelated individuals from Sichuan Province (237 Tibetan individuals and 95 Yi individuals) are firstly genotyped with 21 non-CODIS autosomal STRs, and phylogenetic relationships with 26 previously investigated populations (9,444 individuals) are subsequently explored. In the Sichuan Tibetan and Yi, the combined power of discrimination (CPD) values are 0.9999999999999999999 and 0.9999999999999999993, and the combined power of exclusion (CPE) values are 0. 999997 and 0.999999, respectively. Analysis of molecular variance (AMOVA), principal component analysis (PCA), multidimensional scaling plots (MDS) and phylogenetic analysis demonstrated that Sichuan Tibetan has a close genetic relationship with Tibet Tibetan, and Sichuan Yi has a genetic affinity with Yunnan Bai group. Furthermore, significant genetic differences have widely existed between Chinese minorities (most prominently for Tibetan and Kazakh) and Han groups, but no population stratifications rather a homogenous group among Han populations distributed in Northern and Southern China are observed. Aforementioned results suggested that these 21 STRs are highly polymorphic and informative in the Sichuan Tibetan and Yi, which are suitable for population genetics and forensic applications.

Genetic structure and polymorphisms of Gelao ethnicity residing in southwest china revealed by X-chromosomal genetic markers

“…Although, overall consensus was showed among the Gelao and other homogeneous populations, the completely same results about the closer genetic relationships between the Gelao and others cannot be obtained by using distinct descriptive methods, like the conclusions revealed by formal tests of Admixturetools 65 or TreeMix 66 . Which is also consisted with previous studies based on the Y-chromosomal, autosomal genetic markers 13 , 14 , 67 , 68 . Totally, our results based on the X-chromosomal markers demonstrated genetic differentiations among Turkic, Tibeto-Burman and other admixture groups (homogeneous populations, including Gelao).…”

“…Y-chromosomal STRs with the features of high mutation and male especial inheritance play an important role in the population genetics, genealogy researches, evolutionary and forensic studies 8 , 9 . In forensic science, more attentions have been paid to widely in the rates and patterns of de novo STR mutations, genetic polymorphisms and forensic characteristics of the CODIS (Combined DNA Index System) or expanded CODIS markers 10 – 14 , or specific Y chromosome STRs (Y Filer Plus and PowerPlex Y23) 15 – 18 in geographically, linguistically, and ethnically diverse populations 9 , 19 – 21 .…”

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

“…This new PCR amplification system is more polymorphic and informative compared with the forensic effectiveness of 21 non-Combined DNA Index System (CODIS) autosomal STRs included in the AGCU 21+1 system, which CPD and CPE are, respectively, 0.9999999999999999999 and 0. 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).…”

“…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).…”

Identification of sequence polymorphisms at 58 STRs and 94 iiSNPs in a Tibetan population using massively parallel sequencing

“…They have a distinctive language, clothing, customs, religious characteristics from other Chinese or South Asian ethnic groups 40 and can be further classified as Wei Tibetan, Kangba Tibetan and Amdo Tibetan 41 by linguistics. The diversities of LB STR alleles using CE methods have been reported in some studies 42,43 , but the polymorphisms of SB STR and SNP alleles on MPS platforms using the Forenseq system have not been researched in this ethnic group.…”