Mengge Wang

Forensic features and phylogenetic analyses of Sichuan Han population via 23 autosomal STR loci included in the Huaxia Platinum System

Short tandem repeats (STRs) are DNA regions with a variable number of repeated units (2–6xa0bp) and attractive to genetic application like forensic, population genetics, and anthropological studies. The Huaxia Platinum System allows the multiplex amplification of 23 autosomal STR loci and two gender determination loci. In the present study, genetic polymorphisms of these 23 autosomal STR loci were first obtained from 309 Sichuan Han individuals, southwest China. No evidence of deviation from the Hardy-Weinberg equilibrium (HWE) was identified. The combined match probability (CMP), combined power of discrimination (CPD), and combined power of exclusion (CPE) are 1.087xa0×xa010−27, 0.999999999999999999999999999, and 0.9999999996 in the Sichuan Han Chinese population, respectively. The inter-population differentiation, PCA, MDS, and phylogenetic analysis revealed that Sichuan Han had a closer genetic relationship with neighboring Han Chinese populations. Our findings indicated that the 23 autosomal STR loci are polymorphic and informative in studied southwestern Chinese Han population and can be utilized as a powerful tool for forensic applications. In addition, population comparisons demonstrated that the genetic similarities widely existed among Han Chinese populations distributed in different administrative divisions, and genetic differences had existed between minorities (most prominently for Uyghur and Kazakh) and Han groups.

Genetic polymorphisms for 19 X-STR loci of Sichuan Han ethnicity and its comparison with Chinese populations

X-chromosomal short tandem repeats (X-STRs) can be serviced as a complementary tool in forensic deficiency cases and other complicated kinship identification. To investigate the genetic variation of the western Chinese Han population, genetic polymorphisms of 19 X-STR loci (DXS8378, DXS7423, DXS10148, DXS10159, DXS10134, DXS7424, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103, DXS10101, HPRTB, DXS6809, DXS10075, DXS10074 and DXS10135) included in the AGCU X19 PCR amplification kit were obtained from 201 Chinese Han individuals (108 females and 93 males) residing in Sichuan province, western China. A total of 211 alleles were found from the 19 X-STR loci, and 4-22 alleles were found for each locus with the corresponding allele frequencies spanned from 0.0034 to 0.6395. The combined PDF and PDM were 0.9999999999999999999992 and 0.9999999999997, respectively. The combined MECKrüger, MECKishida, MECDesmarais as well as MECDesmarais Duo were 0.999999958110254, 0.999999999996533, 0.999999999996695 and 0.999999992428394, respectively. The number of haplotypes observed in the seven linkage groups varied from 27 to 97 for 108 male individuals with the corresponding haplotype diversities spanned from 0.9424 (DXS7424-DXS101) to 0.9979 (DXS7132-DXS10079-DXS10075-DXS10074). The above-mentioned results indicated that the 19 X-STR loci and the seven linkage groups are highly polymorphic and informative in the Sichuan Han population. Results from population comparisons and phylogenetic analyses demonstrated that genetic heterogeneity widely existed between the Sichuan Han population and Xinjiang minority ethnic groups (Uyghur and Kazakh) and genetic affinity was identified in populations which possessed the same ethno-origin or close geographic origin.

X-chromosomal STR-based genetic structure of Sichuan Tibetan minority ethnicity group and its relationships to various groups

The X-chromosomal short tandem repeats (STRs) with more informative than autosomal STRs in some complicated biological relationships identification due to its specific mode of genetic transmission can be used as a complementary tool in forensic case practices. In this study, we presented the population genetic data of 19 X-STRs, consisting of DXS10174, DXS10075, DXS10079, DXS101, DXS10101, DXS10103, DXS10134, DXS10135, DXS10148, DXS10159, DXS10162, DXS10164, DXS6789, DXS6809, DXS7132, DXS7423, DXS7424, DXS8378, and HPRTB loci, in a sample of 235 individuals of Tibetan nationality from Sichuan province, Southwest China. All 19 X-STR loci were consistent with Hardy-Weinberg equilibrium. The results showed that the combined power of discrimination in females and males are 0.999999999999999999997 and 0.9999999999997, respectively. In addition, the mean paternity exclusion chances based on the formula of MECKrüger, MECKishida, and MECDesmarais as well as MECDesmarais Duo are 0.99999991, 0.9999999999924, 0.9999999999929, and 0.999999985, respectively. In summary, our findings suggested that the AGCU X19 kit can be considered to serve as a high polymorphic information tool for forensic identification and kinship testing in the Sichuan Tibetan population. Furthermore, population genetic structure investigation between Sichuan Tibetan population and other 19 populations using PCA, MDS, and phylogenetic tree illustrated that significant genetic difference was observed between the Sichuan Tibetan and Malay, as well as the Xinjiang Uyghur population.

Massively parallel sequencing of 165 ancestry informative SNPs in two Chinese Tibetan-Burmese minority ethnicities

The Tibeto-Burman language, one subfamily of the Sino-Tibetan languages, is spoken by over 60 million people all over East Asia. Yet the ethnic origin and genetic architecture of Tibeto-Burman speaking populations remain largely unexplored. In the present study, 169 Chinese individuals from Tibeto-Burman speaking populations (two ethnic groups: Tibetan and Yi) in four different geographic regions in western China were analyzed using the Precision ID Ancestry Panel (165 AISNPs) and the Ion PGM System. The performance and corresponding forensic statistical parameters of this AISNPs panel were investigated. Comprehensive population genetic comparisons (143 populations based on Kidd SNPs, 92 populations on the basis of Seldin SNPs and 31 populations based on the Precision ID Ancestry Panel) and ancestry inference were further performed. Sequencing performance demonstrated that the Precision ID Ancestry Panel is effective and robust. Forensic characteristics suggested that this panel not only can be used for ancestry estimation of Tibeto-Burman populations but also for individual identification. Tibetan and Yi shared a common genetic ancestry origin but experienced the complex history of gene flow, local adaptation, and isolation, and constructed the specific genetic landscape of human genetic diversity of Highlander and Lowlander populations. Tibetan-Burman populations and other East Asian populations showed sufficient genetic difference and could be distinguished into three distinct groups. Furthermore, analysis of population structure revealed that significant genetic difference was existed inter-continent populations and strong genetic affinity was observed within-continent populations. Additional population-specific AISNPs and a relatively more comprehensive database with sufficient reference population data remain necessary to get better-scale resolution within a geographically proximate populations in East Asia.

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

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.

Forensic ancestry analysis in two Chinese minority populations using massively parallel sequencing of 165 ancestry-informative SNPs

Ancestry inference based on SNPs with marked allele frequency differences in diverse populations (called ancestry‐informative SNP (AISNP)) is rapidly developed with the technology advancements of massively parallel sequencing. Despite the decade of exploration and broad public interest in the peopling of East‐Asians, the genetic landscape of Chinese Silk Road populations based on the AISNPs is still little known. In this work, 206 unrelated individuals from Chinese Uyghur and Hui populations were firstly genotyped by 165 AISNPs (The Precision ID Ancestry Panel) using the Ion Torrent Personal Genome Machine system. The ethnic origin of two investigated populations and population structures and genetic relationships were subsequently investigated. The 165 AISNPs panel not only can differentiate Uyghur and Hui populations but also has potential applications in individual identification. Comprehensive population comparisons and admixture estimates demonstrated a predominantly higher European‐related ancestry (36.30%) in Uyghurs than Huis (3.66%). Overall, the Precision ID Ancestry Panel can provide good resolution at the intercontinental level, but has limitations on the genetic homogeneous populations, such as the Hui and Han. Additional population‐specific AISNPs remain necessary to get better‐scale resolution within geographically proximate populations in East Asia.

Genetic characteristics and phylogenetic analysis of three Chinese ethnic groups using the Huaxia Platinum System

Short tandem repeats (STRs) are attractive to genetic applications like forensic, anthropological and population genetics studies. The Huaxia Platinum System was specifically developed to allow co-amplification and detection of all markers in the expanded CODIS core loci and the Chinese National Database. In this study, in continuation to our previous validation study, 568 unrelated individuals were firstly genotyped to investigate the effectiveness of this novel assay in 3 main ethnic groups of China (Han, Tibetan and Yi). The combined power of discrimination (CPD) were 0.9999999999999999999999999992, 0.999999999999999999999999992, 0.999999999999999999999999998, respectively, and the combined power of exclusion (CPE) were 0.9999999999, 0.999999995, 0.999999998, respectively. Next, genetic relationships along administrative and ethnic divisions were analyzed using pairwise genetic distances, multidimensional scaling (MDS), principal component analysis (PCA) and phylogenetic analysis. The Han ethnicity showed a high genetic homogeneity all across China, and significant genetic differences existed between Han groups and some minority groups, most prominently for the Tibetans, the Uyghurs, the Kazakhs, the Miaos, the Zhuangs and the Dais. Aforementioned results suggested that the Huaxia Platinum System is polymorphic and informative, which provides an efficient tool not only for human forensics, but also for population genetics studies.

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

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.

Genetic variations and forensic characteristics of Han Chinese population residing in the Pearl River Delta revealed by 23 autosomal STRs

Pearl River Delta, known as the Chinese “South Gate”, locates adjacent to Hong Kong and Macao, and across the sea from the Southeast Asian region. Herein, 4325 unrelated Han Chinese individuals residing in the Pearl River Delta region were recruited and genotyped with 23 autosomal STRs (the expanded CODIS core loci plus D6S1043, Penta D and Penta E). No evidence of deviation from Hardy–Weinberg equilibrium after Bonferroni correction was observed. The combined match probability and combined power of exclusion were 1.7829u2009×u200910−28 and 0.9999999996, respectively. Next, population comparisons among ethnically, linguistically, and geographically diverse populations (11 Chinese populations based on genotypes of same 23 autosomal STRs, 46 Chinese nationwide populations based on allele frequency distributions of 19 autosomal STRs and 51 worldwide populations on the basis of 20 autosomal STRs) were performed via Structure, MDS, PCA and neighbor-joining tree. Genetic heterogeneities among Chinese nationalities along ethno-linguistic boundaries (Turkic-speaking, Tibeto-Burman-speaking, and Chinese-speaking populations) and geographic divisions (North-Han and South-Han) have been illustrated by first two autosomal microsatellite datasets. The results from worldwide population genetic relationship exploration based on 20 autosomal STRs demonstrated that genetic affinity has existed within ethnical and geographical close populations.

Developmental validation of a custom panel including 165 Y-SNPs for Chinese Y-chromosomal haplogroups dissection using the ion S5 XL system

Massively parallel sequencing (MPS) technology has the capability to genotype hundreds to thousands of SNPs from multiple samples, with high coverage in a single experimental run. MPS, which enables high-resolution Y haplogrouping from limited DNA resources, has attracted much interest in Y-chromosomal applications, particularly human forensics and anthropological studies. Previously, we selected and designed a 72 Y-SNPs MPS panel aiming at the Chinese population for providing the basic structure of the haplogroup tree, and then additional Y-SNPs were screened out for further subdivision into different populations by using pyrosequencing technology. In the present study, we designed a customized MPS panel that includes 165 Y-SNPs based on our previous studies and evaluated the sequencing performance, sensitivity and the ability of the MPS-SNP panel to analyze case-type samples using the Ion S5 XL System. In the concordant study, only four Y-SNPs presented missing genotypes due to low coverage reads, and five SNPs were prone to being designated heterozygotes, whereas the designation of the other SNPs were fully consistent with the results obtained from other Y-SNP typing tools. The analyst-interpreted Y-SNP profiles demonstrated that the targeted Y-SNPs, except for the nine poorly performing Y-SNPs, performed well and could acquire achievable high-resolution. Moreover, this MPS panel could be adapted to case-type samples, and single source complete profiles could be stably obtained using 1u2009ng of input DNA. In summary, this MPS Y-SNP panel offers a straightforward sample-to-haplogroup workflow that would be beneficial for paternal lineage classification and forensic pedigree searches, and the present results provide support for the application of MPS technology in SNP analysis.